clinical dna test menu - Prevention Genetics

CLINICAL DNA TEST MENU SEPTEMBER 2017 PRICE BY DISEASE UPDATE 9/1/17

&Value

Quality QUALITY MEASURES

• One error over 12 years of laboratory operation out of ~10,000 Proficiency Tests, both external and internal. For individual gene sequencing tests and panel sequencing tests, we count each exon as a Proficiency Test. • Comparison of our Sanger sequencing to NextGen sequence data: Four errors out of 19.5 Mb sequenced (~7,400 sequence variants) (all four errors were the result of allele dropout during PCR).

• Comparison of our NextGen sequencing to Sanger sequence data and to NextGen sequence data from other labs: One error out of 7.0 Mb sequenced (~9,800 sequence variants). • Ten specimen labeling errors out of ~45,000 opportunities, but only one of which led to an incorrect report.

DISTINGUISHING FEATURES 1. F ree testing for variants of uncertain significance is provided for up to two family members of probands who were tested at PreventionGenetics. 2. A ll of our test results and reports are carefully reviewed by at least four highly trained and experienced individuals, including two doctorate geneticists. 3. O ur genotyping panel is run on all specimens, as a quality control measure, to detect specimen mislabeling. 4. All variants detected by NextGen sequencing that are pathogenic or of uncertain significance are confirmed by Sanger sequencing (except for uncertain variants in exome tests). 5. A ll gene-centric aCGH results are confirmed by PCR. Breakpoints are identified in many cases through sequencing of the PCR products. We then offer more cost effective PCR tests for family studies. 6. A ll targeted variant testing (mostly single and double exon sequencing), and prenatal testing in particular, are performed twice by different lab personnel. 7. F or genes which cannot be accurately analyzed by NextGen sequencing due of the presence of pseudogenes, we supplement the NextGen data with special Sanger sequencing tests. Such genes include PKD1, GBA, PMS2 and NEB. 8. In our PGxome tests, for variant interpretation, we distribute the variants to our PhD and MD experts, each of whom focuses on a specific subset of the genome. This results in more efficient and accurate variant interpretation. 9. W e analyze all NextGen sequencing data for copy number variants (CNVs). The sensitivity of this approach for CNV detection is still lower than aCGH, but is improving. 10. All sequence variants that are not common (≥ 10% allele frequency) are interpreted manually by our doctorate geneticists. We do not rely solely on automated approaches. 11. Wherever practical, we utilize quantitative approaches for interpretation of sequence variants. We do not rely solely on qualitative approaches.

12. We retain excess DNA from patient testing so that it is available for future testing and for quality control. This saves considerable phlebotomy and shipping costs. Patients that undergo testing at PreventionGenetics receive a discounted rate on DNA Banking. 13. PreventionGenetics retains complete patient sequences for reinterpretation and to benefit family members. This data is available for eventual transfer into patient electronic health records. 14. All staff who work on tests and test reports are on site in Marshfield, including our counselors and doctorate geneticists. None of these employees work remotely. This facilitates communication and continuing education. 15. We are transparent with test prices on our web site. 16. Special sizing assays are run for regions of short tandem repeats within or near coding regions. Examples are the (T) 9 sequence within exon 9 of the ZMPSTE24 gene and the (TG) 11 (T) 7 sequence in intron 8 of the CFTR gene. Such repeat regions cannot be accurately determined by sequencing alone. 17. For chromosomal microarray tests, we routinely report candidate genes for recessive disease which lie in regions with absence of heterozygosity. 18. Maternal cell contamination studies are offered at no additional cost for fetal testing. 19. Where practical, we perform sequential testing for founder mutations first before completing full gene or panel sequencing to hold down costs to the patients. However, concurrent testing can be requested for time sensitive cases. 20. Brief preventive medicine summaries about specific genes and associated disorders have been placed on our web site to act as resources for healthcare providers. These summaries may be particularly useful when preparing letters of medical necessity. 21. We have provided all sequence variants found in our patients to the NCBI ClinVar database. We make all of our test data available for research purposes (while protecting patient confidentiality). We provide free variant interpretation for any clinically relevant gene.

Value = Quality / Cost To view our full test menu, visit www.PreventionGenetics.com 3800 S. Business Park Ave. • Marshfield, Wisconsin 54449 • Phone: (715) 387-0484 • Fax: (715) 384-3661 16DEC27

CLINICAL TEST PRICES BY DISEASE TEST NO.

TEST NAME

PRICE

TARGETED FAMILIAL MUTATIONS _______________________________________________________________ 100 1 VARIANT $250 _______________________________________________________________ 200 2 VARIANTS $370 _______________________________________________________________ 300 3 VARIANTS $440 _______________________________________________________________ 990 PRENATAL FAMILIAL MUTATION TESTING $990 _______________________________________________________________ 600 DELETION / DUPLICATION VIA ACGH NUMBER OF GENES ORDERED TOTAL PRICE 1 $690 2 $730 3 $770 4-10 $840 11-30 $1,290 31-100 $1,670 _______________________________________________________________ OVER 100 CALL FOR QUOTE

TEST NO.

TEST NAME

PRICE

46,XY,DSD _______________________________________________________________ 735 HSD17B3 $780 1462 NR0B1 $540 _______________________________________________________________

6-PYRUVOYLTETRAHYDROPTERIN SYNTASE DEFICIENCY _______________________________________________________________ 1868 PTS $650 _______________________________________________________________

AARSKOG-SCOTT SYNDROME _______________________________________________________________ 837 FGD1 $940 _______________________________________________________________

ACERULOPLASMINEMIA _______________________________________________________________ 2033 CP $1,220 _______________________________________________________________

ACHONDROGENESIS _______________________________________________________________

2000 CHROMOSOMAL MICROARRAY $990 _______________________________________________________________ 2200 PRENATAL _______________________________________________________________ CHROMOSOMAL MICROARRAY $1,390

425 FGFR3 - EXON 10 $250 782 SLC26A2 $650 1152 TRIP11 $1,650 _______________________________________________________________

3780 RAPID PRENATAL CHROMOSOMAL _______________________________________________________________ MICROARRAY VIA aCGH AND SNP $1,390

ACHONDROPLASIA _______________________________________________________________

5000 PGXOME™ WHOLE EXOME SEQUENCING - DIAGNOSTIC TRIO $4,990 DUO $3,490 INDIVIDUAL $2,490 _______________________________________________________________ 4000 PGXOME™ WHOLE EXOME SEQUENCING - HEALTH SCREEN COUPLE $4,490 SINGLETON $2,490 _______________________________________________________________

FULL GENE AND PANEL TESTS 2Q23.1 MICRODELETION SYNDROME AND AUTISM SPECTRUM DISORDER _______________________________________________________________ 4183 MBD5 $990 _______________________________________________________________

3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY _______________________________________________________________ 2151 HADH $780 _______________________________________________________________

3-HYDROXY-3-METHYL GLUTARYL-COA LYASE DEFICIENCY _______________________________________________________________ 240 HMGCL $680 _______________________________________________________________

3-M SYNDROME _______________________________________________________________ 2882 CCDC8 $580 4385 CUL7 $990 _______________________________________________________________

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY _______________________________________________________________ 3263 NEXTGEN PANEL $1,440 _______________________________________________________________ MCCC1 MCCC2 _______________________________________________________________

3-METHYLGLUTACONIC ACIDURIA TYPE I _______________________________________________________________ 323 AUH $710 567 OPA3 $490 149 TAZ $680 _______________________________________________________________

429 FGFR3 $970 _______________________________________________________________

ACHROMATOPSIA _______________________________________________________________ 3265 NEXTGEN PANEL $1,440 _______________________________________________________________ CNGA3 CNGB3 GNAT2 PDE6C PDE6H _______________________________________________________________

ACROCALLOSA _______________________________________________________________ 3169 KIF7 $990 _______________________________________________________________

ACRO-DERMATO-UNGAL-LACRIMAL-TOOTH SYNDROME _______________________________________________________________ 834 TP63 $870 _______________________________________________________________

ACROFACIAL DYSOSTOSIS, NAGER TYPE _______________________________________________________________ 1953 NEXTGEN PANEL $1,440 _______________________________________________________________ DHODH EFTUD2 POLR1C POLR1D SF3B4 TCOF1 _______________________________________________________________

ACROMESOMELIC DYSPLASIA _______________________________________________________________ 852 GDF5 $520 _______________________________________________________________

ACRO-RENAL-OCULAR SYNDROME _______________________________________________________________ 832 SALL4 $730 _______________________________________________________________

ACUTE INTERMITTENT PORPHYRIA _______________________________________________________________ 776 HMBS $870 _______________________________________________________________

ACUTE MYELOID LEUKEMIA _______________________________________________________________ 996 CEBPA $580 286 GATA2 $680 439 RUNX1 $680 _______________________________________________________________

ACUTE/NEUROVISCERAL PORPHYRIA _______________________________________________________________ 5203 NEXTGEN PANEL $1,390 _______________________________________________________________ ALAD CPOX HMBS PPOX _______________________________________________________________

ACYL-COA OXIDASE DEFICIENCY _______________________________________________________________ 4085 ACOX1 $990 _______________________________________________________________

PUT US TO THE TEST

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TEST NAME

PRICE

ADA DEFICIENCY _______________________________________________________________ 1231 ADA $810 _______________________________________________________________

ADAMS-OLIVER SYNDROME _______________________________________________________________ 1997 DOCK6 $990 _______________________________________________________________

ADP RECEPTOR DEFICIENCY _______________________________________________________________ 2931 P2RY12 $440 _______________________________________________________________

ADENOMA, FAMILIAL ISOLATED _______________________________________________________________ 1225 AIP $680 _______________________________________________________________

ADRENAL HYPOPLASIA _______________________________________________________________

TEST NO.

TEST NAME

PRICE

ALPHA-THALASSEMIA X-LINKED INTELLECTUAL DISABILITY SYNDROME _______________________________________________________________ 1695 ATRX $2,270 _______________________________________________________________

ALPORT SYNDROME _______________________________________________________________ 1388 NEXTGEN PANEL $1,540 _______________________________________________________________ COL4A3 COL4A4 COL4A5 COL4A6 _______________________________________________________________

ALSTROM SYNDROME _______________________________________________________________ 265 ALMS1 $1,850 _______________________________________________________________

ALZHEIMER’S DISEASE _______________________________________________________________

1462 NR0B1 $540 _______________________________________________________________

3409 NEXTGEN PANEL $990 _______________________________________________________________ APP PSEN1 PSEN2 _______________________________________________________________

AGAMMAGLOBULINEMIA (X-LINKED) _______________________________________________________________

AMELOGENESIS IMPERFECTA _______________________________________________________________

1650 BTK $1,100 _______________________________________________________________

AGNATHIA-OTOCEPHALY COMPLEX _______________________________________________________________ 1410 SEQUENTIAL PANEL $1,070 _______________________________________________________________ OTX2 PRRX1 _______________________________________________________________

AICARDI-GOUTIERES SYNDROME _______________________________________________________________ 1977 NEXTGEN PANEL $1,450 _______________________________________________________________ ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 _______________________________________________________________

AIFM1-RELATED DISORDERS _______________________________________________________________ 2134 AIFM1I $990 _______________________________________________________________

ALAGILLE SYNDROME _______________________________________________________________ 4341 NEXTGEN PANEL $1,440 _______________________________________________________________ JAG1 NOTCH2 _______________________________________________________________

ALAGILLE AND PROGRESSIVE FAMILIAL INTRAHEPTIC CHOLESTASIS _______________________________________________________________ 4343 NEXTGEN PANEL $1,490 _______________________________________________________________ ABCB4 ABCB11 ATP8B1 JAG1 NOTCH1 TJP2 _______________________________________________________________

ALEXANDER DISEASE _______________________________________________________________ 3775 GFAP $870 _______________________________________________________________

ALKAPTONURIA _______________________________________________________________ 1188 HGD $910 _______________________________________________________________

ALLAN-HERNDON-DUDLEY SYNDROME _______________________________________________________________ 2086 SLC16A2 $680 _______________________________________________________________

ALPHA-1 ANTITRYPSIN DEFICIENCY _______________________________________________________________ 1086 SERPINA1 $680 _______________________________________________________________

ALPHA-MANNOSIDOSIS _______________________________________________________________ 1236 MAN2B1 $1,280 _______________________________________________________________

2

5207 NEXTGEN PANEL $1,740 _______________________________________________________________ AMELX C4orf26 CNNM4 DLX3 ENAM FAM20A FAM83H GPR68 ITGB6 KLK4 LAMA3 LAMB3 LTBP3 MMP20 ROGDI SLC24A4 SMOC2 WDR72 _______________________________________________________________

AMINOACYLASE-1 DEFICIENCY _______________________________________________________________ 2069 ACY1 $810 _______________________________________________________________

AMYLOIDOSIS _______________________________________________________________ 1403 APOA1 $580 1409 GSN $1,020 929 TTR $540 _______________________________________________________________

AMYOTROPHIC LATERAL SCLEROSIS / FRONTOTEMPORAL DEMENTIA _______________________________________________________________ 108 ALS2 $1,650 3227 SETX $990 _______________________________________________________________ 1965 NEXTGEN PANEL $1,540 _______________________________________________________________ ANG ARHGEF28 C9orf72 CDH13 CHMP2B FUS GRN hnRNPA1 hnRNPA2B1 MAPT OPTN PFN1 PSEN1 PSEN2 SOD1 SQSTM1 TARDBP TREM2 UBQLN2 VABP VCP _______________________________________________________________

AMYOTROPHIC LATERAL SCLEROSIS / MOTOR NEURON DISEASE _______________________________________________________________ 2010 ANXA11 $1,020 _______________________________________________________________

ANAUXETIC DYSPLASIA _______________________________________________________________ 784 RMRP $250 _______________________________________________________________

ANDERMANN SYNDROME _______________________________________________________________ 4947 SLC12A6 $990 _______________________________________________________________

ANDERSON-TAWIL SYNDROME _______________________________________________________________ 1042 KCNJ2 $440 _______________________________________________________________

ANDROGEN INSENSITIVITY SYNDROME _______________________________________________________________ 736 AR $990 _______________________________________________________________

3800 South Business Park Avenue • Marshfield, Wisconsin 54449 • Phone: (715) 387-0484 • www.PreventionGenetics.com


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

ANGELMAN SYNDROME _______________________________________________________________

ATAXIA WITH OCULOMOTOR APRAXIA _______________________________________________________________

2056 UBE3A DEL/DUP $540 574 UBE3A $810 _______________________________________________________________

2615 NEXTGEN PANEL $1,440 _______________________________________________________________ AP TX PIK3R5 SETX _______________________________________________________________

ANIRIDIA _______________________________________________________________ 1483 PAX6 $910 _______________________________________________________________

ANOPHTHALMIA _______________________________________________________________ 2637 NEXTGEN PANEL $1,490 _______________________________________________________________ ALDH1A3 BCOR BMP4 BMP7 CRYBA4 FOXE3 GDF6 HCCS MITF OTX2 RAX SIX6 SMOC1 SOX2 STRA6 TENM3 VSX2 _______________________________________________________________

ANTERIOR SEGMENT DYSGENESIS _______________________________________________________________

ATELOSTEOGENESIS _______________________________________________________________ 4643 FLNB $990 863 SLC26A2 $650 _______________________________________________________________

ATRIAL FIBRILLATION, FAMILIAL _______________________________________________________________ 2613 NEXTGEN PANEL $1,740 _______________________________________________________________ ABCC9 GJA5 KCNA5 KCND3 KCNE1 KCNE2 KCNE5 KCNH2 KCNJ2 KCNQ1 NPPA SCN1B SCN2B SCN3B SCN5A _______________________________________________________________

1821 FOXE3 $580 _______________________________________________________________

ATRIAL FIBRILLATION SYNDROME _______________________________________________________________

ANTI-PLASMIN DEFICIENCY _______________________________________________________________

5117 MYL4 $710 _______________________________________________________________

2233 SERPINF2 $780 _______________________________________________________________

ATRIAL SEPTAL DEFECT _______________________________________________________________

ANTITHROMBIN DEFICIENCY _______________________________________________________________

174 ACTC1 $610 943 GATA4 $650 3237 MYH6 $990 944 NKX2-5 $490 _______________________________________________________________

1574 SERPINC1 $780 _______________________________________________________________

APLASTIC ANEMIA AND MYELODYSPLASTIC SYNDROME _______________________________________________________________ 5271 SRP72 $990 _______________________________________________________________

APPARENT MINERALOCORTICOID EXCESS _______________________________________________________________ 1269 HSD11B2 $680 _______________________________________________________________

ARGININEMIA _______________________________________________________________ 552 ARG1 $710 _______________________________________________________________

ARGININOSUCCINATE LYASE DEFICIENCY _______________________________________________________________ 1181 ASL $970 _______________________________________________________________

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY _______________________________________________________________ 1874 DDC $870 _______________________________________________________________

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY / DYSPLASIA _______________________________________________________________ 1315 NEXTGEN PANEL $1,540 _______________________________________________________________ DES DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM2 _______________________________________________________________

ARTHROGRYPOSIS-RENAL DYSFUNCTIONCHOLESTASIS SYNDROME _______________________________________________________________ 4691 VIPAS39 $990 4693 VPS33B $990 _______________________________________________________________

ASPARTYLGLUCOSAMINURIA _______________________________________________________________ 1558 AGA $750 _______________________________________________________________

ATAXIA-TELANGIECTASIA _______________________________________________________________ 3049 ATM $990 _______________________________________________________________

ATAXIA-TELANGIECTASIA-LIKE DISORDER _______________________________________________________________ 4833 MRE11 $990 _______________________________________________________________

ATRIAL TORTUOSITY SYNDROME _______________________________________________________________ 938 SLC2A10 $750 _______________________________________________________________

ATYPICAL HEMOLYTIC-UREMIC SYNDROME _______________________________________________________________ 1507 DGKE $910 _______________________________________________________________

AUTISM _______________________________________________________________ 4227 SCN2A $990 _______________________________________________________________

AUTISM SPECTRUM DISORDERS AND INTELLECTUAL DISABILITY COMPREHENSIVE PANEL _______________________________________________________________ 5045 INDIVIDUAL (PROBAND) $2,490 5045, 5044 DUO (PROBAND + FAMILY MEMBER) $3,490 5045, 5044(X2)TRIO (PROBAND + 2 FAMILY MEMBERS) $4,490 5411 CHD8 $1,590 3763 FOXP1 $970 _______________________________________________________________

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME _______________________________________________________________ 1648 FAS $810 _______________________________________________________________

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 _______________________________________________________________ 1224 AIRE $970 _______________________________________________________________

AXENFELD-RIEGER SYNDROME _______________________________________________________________ 1995 NEXTGEN PANEL $1,790 _______________________________________________________________ COL4A1 CYP1B1 FOXC1 PAX6 PITX2 SH3PXD2B _______________________________________________________________

AYME-GRIPP SYNDROME _______________________________________________________________ 603 MAF $650 _______________________________________________________________

AZOOSPERMIA/OLIGOZOOSPERMIA _______________________________________________________________ 3035 CFTR $990 734 FSHB $370 732 FSHR $860 _______________________________________________________________

PUT US TO THE TEST

3


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

BANNAYAN-RUVALCABA-RILEY SYNDROME _______________________________________________________________

BLEEDING DISORDERS _______________________________________________________________

707 PTEN $810 _______________________________________________________________

1375 NEXTGEN PANEL $2,490 _______________________________________________________________ ABCG5 ABCG8 ACTN1 ADAMTS13 ANKRD26 ANO6 AP3B1 BLOC1S3 CD36 CYCS DTNBP1 F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FGA FGB FGG FLI1 FLNA GATA1 GFI1B GGCX GP1BA GP1BB GP6 GP9 HOXA11 HPS1 HPS3 HPS4 HPS5 HPS6 ITGA2 ITGA2B ITGB3 LMAN1 MASTL MCFD2 MPL MYH9 NBEAL2 P2RX1 P2RY12 PLAU PRKACG RUNX1 SERPINE1 SERPINF2 TBXA2R TBXAS1 TUBB1 VKORC1 VWF WAS _______________________________________________________________

BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME TYPE 1 (SYNDROMIC INTELLECTUAL DISABILITY) _______________________________________________________________ 2008 ACTB $580 _______________________________________________________________

BARDET-BIEDL SYNDROME _______________________________________________________________ 1053 NEXTGEN PANEL $1,690 _______________________________________________________________ ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 IFT27 LZTFL1 MKKS MKS1 SDCCAG8 TMEM67 TRIM32 TTC8 WDPCP _______________________________________________________________

BARTH SYNDROME _______________________________________________________________

BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME _______________________________________________________________

149 TAZ $680 _______________________________________________________________

1673 FOXL2 $610 _______________________________________________________________

BARTTER SYNDROME _______________________________________________________________

BLOOM SYNDROME _______________________________________________________________

1257 BSND $580 1266 KCNJ1 $610 4653 SLC12A1 $990 _______________________________________________________________

BOOMERANG DYSPLASIA _______________________________________________________________

BECKWITH-WIEDEMAN SYNDROME _______________________________________________________________ 1117 CDKN1C $630 _______________________________________________________________

BENIGN FAMILIAL NEONATAL SEIZURES _______________________________________________________________ 4305 KCNQ3 $990 _______________________________________________________________

BERNARD-SOULIER SYNDROME _______________________________________________________________ 432 SEQUENTIAL PANEL $370 - $1,220 GP1BA GP1BB GP9 _______________________________________________________________

BETA MANNOSIDASE DEFICIENCY _______________________________________________________________ 4351 MANBA $1,590 _______________________________________________________________

BETA-THALASSEMIA _______________________________________________________________ 1088 HBB $490 _______________________________________________________________

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY _______________________________________________________________

3089 BLM $990 _______________________________________________________________

4643 FLNB $990 _______________________________________________________________

BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME _______________________________________________________________ 496 NR2F1 $580 _______________________________________________________________

BRACHDACTYLY _______________________________________________________________ 136 ROR2 $810 1620 NOG $440 2885 CHSY1 $910 _______________________________________________________________

BRACHYOLMIA _______________________________________________________________ 833 TRPV4 $890 _______________________________________________________________

BRANCHIO-OCULO-FACIAL SYNDROME _______________________________________________________________ 1672 TFAP2A $680 _______________________________________________________________

BRANCHED CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY _______________________________________________________________

1541 CYP4V2 $870 _______________________________________________________________

2234 BCKDK $810 _______________________________________________________________

BILATERAL FRONTOPARIETAL POLYMICROGYRIA _______________________________________________________________

BRANCHIOOTORENAL SYNDROME _______________________________________________________________

299 ADGRG1 $840 _______________________________________________________________

BIOTINIDASE DEFICIENCY _______________________________________________________________ 520 BTD $580 _______________________________________________________________

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE _______________________________________________________________ 2087 SLC19A3 $680 _______________________________________________________________

BIRT-HOGG-DUBE SYNDROME _______________________________________________________________ 1204 FLCN $750 _______________________________________________________________

BJORNSTAD SYNDROME _______________________________________________________________ 1562 BCS1L $650 _______________________________________________________________

4

2629 NEXTGEN PANEL $1,490 _______________________________________________________________ EYA1 SIX1 SIX5 _______________________________________________________________

BRITTLE CORNEA SYNDROME _______________________________________________________________ 2683 NEXTGEN PANEL $1,680 _______________________________________________________________ PRDM5 ZNF469 _______________________________________________________________

BROWN-VIALETTO-VAN LAERE SYNDROME _______________________________________________________________ 920 SLC52A2 $440 _______________________________________________________________

BRUGADA SYNDROME _______________________________________________________________ 2603 NEXTGEN PANEL $1,790 _______________________________________________________________ CACNA1C CACNA2D1 CACNB2 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNJ8 RANGRF SCN1B SCN2B SCN3B SCN5A SLMAP TRPM4 _______________________________________________________________



TEST NAME

PRICE

BUTYRYLCHOLINESTERASE DEFICIENCY _______________________________________________________________ 1227 BCHE $610 _______________________________________________________________

C12ORF65-ASSOCIATED OPTIC ATROPHY _______________________________________________________________ 4105 C12orf65 $990 _______________________________________________________________

CABEZAS X-LINKED MENTAL RETARDATION SYNDROME _______________________________________________________________ 561 CUL4B $1,090 _______________________________________________________________

CAMARATI-ENGELMANN SYNDROME _______________________________________________________________

TEST NO.

TEST NAME

PRICE

CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY _______________________________________________________________ 4395 NOTCH3 $990 _______________________________________________________________

CEREBRAL CAVERNOUS MALFORMATIONS _______________________________________________________________ 125 CCM1/KRIT COMMON HISPANIC MUTATION $250 124 CCM2 EXON 2-10 DELETION $250 _______________________________________________________________ 1943 NEXTGEN PANEL $1,440 _______________________________________________________________ CCM2 KRIT1 PDCD10 _______________________________________________________________

787 TGFB1 $690 _______________________________________________________________

CEREBRAL FOLATE DEFICIENCY _______________________________________________________________

CANAVAN DISEASE _______________________________________________________________

1595 FOLR1 $440 _______________________________________________________________

1559 ASPA $680 _______________________________________________________________

CANDLE SYNDROME _______________________________________________________________ 4421 PSMB8 $650 _______________________________________________________________

CANTU SYNDROME _______________________________________________________________ 3159 ABCC9 $990 _______________________________________________________________

CARDIAC VALVULAR DYSTROPHY _______________________________________________________________ 4641 FLNA $990 _______________________________________________________________

CARDIO-FACIO-CUTANEOUS SYNDROME _______________________________________________________________ 1035 SEQUENTIAL PANEL $490 - $3,490 _______________________________________________________________ BRAF MAP2K1 MAP2K2 KRAS SOS1 _______________________________________________________________

CARNEY COMPLEX _______________________________________________________________ 1287 PRKARIA $750 _______________________________________________________________

CARDIAC ARRHYTHMIA _______________________________________________________________ 2607 NEXTGEN PANEL $2,390 _______________________________________________________________ ABCC9 AKAP9 ANK2 CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 DES DSC2 DSG2 DSP GJA5 GPD1L HCN4 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNK3 KCNQ1 LDB3 MYH6 MYL4 NKX2-5 NPPA PKP2 PLN PRKAG2 RANGRF RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SLMAP SNTA1 TGFB3 TMEM43 TNNI3 TNNI3K TRDN TRPM4 _______________________________________________________________

CARTILAGE-HAIR HYPOPLASIA _______________________________________________________________ 784 RMRP $250 _______________________________________________________________

CATECHOLAMINERGIC POLYMOPHIC VENTRICULAR TACHYCARDIA _______________________________________________________________ 1311 NEXTGEN PANEL $1,590 _______________________________________________________________ ANK2 CALM1 CASQ2 KCNJ2 KCNQ1 RYR2 SCN5A TRDN _______________________________________________________________

CENTRONUCLEAR MYOPATHY _______________________________________________________________ 1373 NEXTGEN PANEL $1,690 _______________________________________________________________ BIN1 CCDC78 DNM2 MTM1 RYR1 TTN _______________________________________________________________

CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS _______________________________________________________________ 2007 CTC1 $1,220 _______________________________________________________________

CEREBROTENDINOUS XANTHOMATOSIS _______________________________________________________________ 1670 CYP27A1 $750 _______________________________________________________________

CHAR SYNDROME _______________________________________________________________ 942 TFAP2B $710 _______________________________________________________________

CHARCOT-MARIE-TOOTH DISEASE _______________________________________________________________ 2647 NEXTGEN PANEL - COMPREHENSIVE $2,140 _______________________________________________________________ AARS AIFM1 COX6A1 CTDP1 DHTKD1 DNM2 DYNC1H1 EGR2 FBLN5 FGD4 FIG4 GARS GDAP1 GJB1 GNB4 HINT1 HK1 HSPB1 HSPB8 IGHMBP2 INF2 KARS KIF5A LITAF LMNA LRSAM1 MARS MED25 MFN2 MPZ MTMR2 NDRG1 NEFL PDK3 PLEKHG5 PMP22 PRPS1 PRX RAB7A SBF1 SBF2 SH3TC2 TRIM2 TRPV4 YARS _______________________________________________________________ 2645 NEXTGEN PANEL - AXONAL $2,090 _______________________________________________________________ AARS AIFM1 COX6A1 CTDP1 DHTKD1 DNM2 DYNC1H1 FGD4 FIG4 GARS GDAP1 GJB1 GNB4 HINT1 HK1 HSPB1 HSPB8 IGHMBP2 INF2 KARS KIF5A LMNA LRSAM1 MARS MED25 MFN2 MPZ MTMR2 NDRG1 NEFL PDK3 PLEKHG5 PRPS1 PRX RAB7A SBF1 SBF2 SH3TC2 TRIM2 TRPV4 YARS _______________________________________________________________ 2643 NEXTGEN PANEL - DEMYELINATING NEUROPATHY $1,690 _______________________________________________________________ COX6A1 CTDP1 DNM2 EGR2 FBLN5 FGD4 FIG4 GDAP1 GJB1 GNB4 HK1 INF2 KARS LITAF MPZ MTMR2 NDRG1 NEFL PLEKHG5 PMP22 PRX SBF1 SBF2 SH3TC2 YARS _______________________________________________________________

CHARGE SYNDROME _______________________________________________________________ 880 SEQUENTIAL PANEL $2,920 _______________________________________________________________ CHD7 SEMA3E _______________________________________________________________

CHARGE AND KALLMANN SYNDROMES _______________________________________________________________ 3267 NEXTGEN PANEL $1,440 _______________________________________________________________ ANOS1 CHD7 SEMA3E _______________________________________________________________

PUT US TO THE TEST

5


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

CHEDIAK-HIGASHI SYNDROME _______________________________________________________________

CHRONIC/CUTANEOUS PORPHYRIA _______________________________________________________________

3171 LYST $990 _______________________________________________________________

5205 NEXTGEN PANEL $1,390 _______________________________________________________________ ALAS2 CPOX FECH PPOX UROD UROS _______________________________________________________________

CHERUBISM _______________________________________________________________ 1288 SH3BP2 $840 _______________________________________________________________

CHILD SYNDROME _______________________________________________________________ 1034 NSDHL $610 _______________________________________________________________

CHILDHOOD ABSENCE EPILEPSY AND EPILEPTIC ENCEPHALOPATHY _______________________________________________________________ 2224 GABRB3 $840 _______________________________________________________________

CHOLESTASIS _______________________________________________________________ 1963 NEXTGEN PANEL $1,590 _______________________________________________________________ ABCB4 ABCB11 AKR1D1 ATP8B1 BAAT CLDN1 HSD3B7 JAG1 NOTCH2 NR1H4 SERPINA1 SLC25A13 TJP2 VIPAS39 VPS33B _______________________________________________________________ 4343 NEXTGEN PANEL - PROGRESSIVE $1,490 FAMILIAL INTRAHEPTIC CHOLESTASIS (PFIC) _______________________________________________________________ ABCB11 ATP8B1 JAG1 NOTCH2 TJP2 _______________________________________________________________

CHOLESTERYL ESTER STORAGE DISEASE _______________________________________________________________ 482 LIPA $680 _______________________________________________________________

CHONDRODYSPLASIA PUNCTATA _______________________________________________________________ 781 EBP X-LINKED DOMINANT $560 813 ARSE X-LINKED RECESSIVE $790 _______________________________________________________________

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS / CATEL–MANZKE SYNDROME _______________________________________________________________ 2338 IMPAD1 $750 _______________________________________________________________

CHOPS SYNDROME _______________________________________________________________ 4625 AFF4 $990 _______________________________________________________________

CHOROIDEREMIA _______________________________________________________________

CHUDLEY-MCCULLOUGH SYNDROME _______________________________________________________________ 4001 GPSM2 $990 _______________________________________________________________

CILIOPATHY _______________________________________________________________ 1056 NEXTGEN PANEL $2,990 _______________________________________________________________ ACVR2B AHI1 ANKS6 ARL13B ARL6 ARMC4 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C21orf59 C5orf42 CC2D2A CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP164 CEP290 CEP41 CEP83 CFAP53 CFTR CSPP1 DCDC2 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAL1 DRC1 FOXH1 GDF1 GLIS2 IFT27 INPP5E INVS IQCB1 KIF14 KIF7 LEFTY2 LRRC6 LZTFL1 MKKS MKS1 NEK8 NKX2-5 NME8 NODAL NPHP1 NPHP3 NPHP4 OFD1 PDE6D RPGR RPGRIP1L RSPH1 RSPH4A RSPH9 SDCCAG8 SPAG1 TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TTC21B TTC8 WDPCP WDR19 ZIC3 ZMYND10 ZNF423 _______________________________________________________________

CITRULLINEMIA _______________________________________________________________ 553 ASS1 $840 _______________________________________________________________

CK SYNDROME _______________________________________________________________ 1034 NSDHL $610 _______________________________________________________________

CLASSIC AMYOTROPHIC LATERAL SCLEROSIS _______________________________________________________________ 3421 NEXTGEN PANEL $2,50-1440 _______________________________________________________________ C9orf72 FUS SOD1 TARDBP _______________________________________________________________

CLEIDOCRANIAL DYSPLASIA _______________________________________________________________ 786 RUNX2 $860 _______________________________________________________________

4959 CHM $990 _______________________________________________________________

COAGULATION FACTOR DEFICIENCY _______________________________________________________________

CHROMOSOMAL INSTABILITY SYNDROMES _______________________________________________________________ 1214 NEXTGEN PANEL $1,590 _______________________________________________________________ ATM BLM ERCC6 ERCC8 MRE11 NBN RECQL4 WRN _______________________________________________________________

1379 NEXTGEN PANEL $1,990 _______________________________________________________________ F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FGA FGB FGG GGCX LMAN1 MCFD2 SERPINE1 SERPINF2 VKORC1 VWF _______________________________________________________________

CHROMOSOME 5Q14.3 DELETION SYNDROME _______________________________________________________________

COCKAYNE SYNDROME _______________________________________________________________

4187 MEF2C $990 _______________________________________________________________

CHRONIC GRANULOMATOUS DISEASE _______________________________________________________________ 1971 NEXTGEN PANEL $1,490 _______________________________________________________________ CYBA CYBB NCF2 NCF4 _______________________________________________________________

CHRONIC PANCREATITIS _______________________________________________________________ 1442 CPA1 $750 _______________________________________________________________ 1395 NEXTGEN PANEL $1,790 _______________________________________________________________ CASR CFTR CTRC PRSS1 SPINK1 _______________________________________________________________

6

3075 ERCC6 $990 1009 ERCC8 $840 _______________________________________________________________

COENZYME Q10 UBIQUINONE DEFICIENCY _______________________________________________________________ 4529 NEXTGEN PANEL $1,540 _______________________________________________________________ APTX COQ2 COQ4 COQ6 COQ8A COQ8B COQ9 ETFA ETFB ETFDH PDSS1 PDSS2 _______________________________________________________________

COFFIN-SIRIS SYNDROME _______________________________________________________________ 2633 NEXTGEN PANEL $1,590 _______________________________________________________________ ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1 SOX11 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

COHEN SYNDROME _______________________________________________________________

COMPREHENSIVE FETAL AND NEONATAL LOSS _______________________________________________________________

4325 VPS13B $990 _______________________________________________________________

4369 NEXTGEN PANEL $2,580 _______________________________________________________________ BRAF CBL CHRNA1 CHRND CHRNG CTSA DHCR7 DOK7 GALNS GBA GLB1 GLE1 GNPTAB GUSB HRAS IDUA KAT6B KCNH2 KCNQ1 KLHL40 KRAS LIPA MAP2K1 MAP2K2 MUSK NRAS PEX1 PEX10 PEX12 PEX26 PEX6 PTPN11 RAF1 RAPSN RIT1 SCN5A SHOC2 SLC17A5 SOS1 SUMF1 _______________________________________________________________

COLLAGENOPATHY TYPE VI _______________________________________________________________ 1353 NEXTGEN PANEL $1,490 COL12A1 COL6A1 COL6A2 COL6A3 _______________________________________________________________

COLORECTAL CANCER _______________________________________________________________ 1706 POLD1 $1,340 1705 POLE $2,170 _______________________________________________________________ 1975 NEXTGEN PANEL AND DEL/DUP PANEL $1,190 _______________________________________________________________ APC ATM BLM BMPR1A BUB1B CDH1 CHEK2 EPCAM MLH1 MSH2 MSH6 MUTYH PMS2 PTEN SMAD4 STK11 TP53 _______________________________________________________________

COMBINED FACTOR V AND FACTOR VIII DEFICIENCY _______________________________________________________________ 4179 LMAN1 $990 2924 MCFD2 $540 _______________________________________________________________

COMBINED IMMUNODEFICIENCY (X-LINKED) _______________________________________________________________ 1655 IL2RG $680 _______________________________________________________________

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY _______________________________________________________________ 2073 FARS2 $650 2984 MRPL3 $810 2985 TSFM $780 _______________________________________________________________

COMBINED PITUITARY HORMONE DEFICIENCY _______________________________________________________________ 629 LHX4 $610 _______________________________________________________________

COMMON VARIABLE IMMUNE DEFICIENCY _______________________________________________________________ 1692 TNFRSF13B $610 _______________________________________________________________

COMPREHENSIVE CARDIOLOGY _______________________________________________________________ 2663 NEXTGEN PANEL $2,400 _______________________________________________________________ ABCC9 ABCG5 ABCG8 ACTA1 ACTA2 ACTC1 ACTN2 AKAP9 ALMS1 ANK2 ANKRD1 APOA4 APOA5 APOC2 APOE BAG3 BRAF CACNA1C CACNA2D1 CACNB2 CALM1 CALR3 CASQ2 CAV3 CAVIN4 CBL CBS CETP COL3A1 COL5A2 COX15 CREB3L3 CRELD1 CRYAB CSRP3 DES DMD DNAJC19 DOLK DPP6 DSC2 DSG2 DSP DTNA EFEMP2 ELN EMD EYA4 FBN1 FBN2 FHL1 FHL2 FKRP FKTN GAA GATAD1 GCKR GJA5 GLA GPD1L GPIHBP1 HADHA HCN4 HFE HRAS HSPB8 ILK JAG1 JPH2 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KLF10 KRAS LAMA2 LAMA4 LAMP2 LDB3 LDLR LDLRAP1 LMF1 LMNA LPL LTBP2 MAP2K1 MAP2K2 MIB1 MYBPC3 MYH11 MYH6 MYH7 MYL2 MYL3 MYLK MYLK2 MYO6 MYOZ2 MYPN NEXN NKX2-5 NODAL NOTCH1 NPPA NRAS PDLIM3 PKP2 PLN PRDM16 PRKAG2 PRKAR1A PTPN11 RAF1 RANGRF RBM20 RYR1 RYR2 SALL4 SCN1B SCN2B SCN3B SCN4B SCN5A SCO2 SELENON SGCD SGCG SHOC2 SLC25A4 SLC2A10 SMAD3 SMAD4 SNTA1 SOS1 SREBF2 TAZ TBX3 TBX5 TCAP TGFB2 TGFB3 TGFBR2 TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TRDN TRIM63 TRPM4 TTN TTR VCL ZBTB17 ZHX3 ZIC3 _______________________________________________________________

COMPREHENSIVE NEUROMUSCULAR _______________________________________________________________ 4937 NEXTGEN PANEL $2,490 _______________________________________________________________ ACTA1 AGL AGRN ALG14 ALG2 ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BICD2 BIN1 CACNA1S CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN1 CNTN1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM1 DPM2 DPM3 DYSF ECEL1 EMD FHL1 FKRP FKTN FLNC GAA GBE1 GFPT1 GLE1 GMPPB GNE HNRNPA1 HNRNPA2B1 HNRNPDL ISCU ISPD ITGA7 KBTBD13 KLHL40 KLHL41 KLHL9 LAMA2 LARGE1 LDB3 LIMS2 LMNA LMOD3 MATR3 MEGF10 MICU1 MTM1 MUSK MYH2 MYH3 MYH7 MYO18B MYOT NEB PFKM PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PTRF PYGM RAPSN RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SIL1 SMCHD1 SNAP25 SQSTM1 STAC3 STIM1 SYNE1 SYT2 TCAP TIA1 TMEM43 TMEM5 TNNI2 TNNT1 TNNT3 TNPO3 TOR1AIP1 TPM2 TPM3 TRAPPC11 TRIM32 TTN VCP _______________________________________________________________

COMPREHENSIVE NEUROPATHY _______________________________________________________________ 3441 NEXTGEN PANEL $1,990 _______________________________________________________________ AARD AIFM1 ATL1 ATP7A BICD2 BSCL2 CCT5 COX6A1 DCTN1 DHTKD1 DNAJB2 DNM2 DNMT1 DYNC1H1 EGR2 FAM134B FBLN5 FGD4 FIG4 GAN GARS GDAP1 GJB1 GNB4 HINT1 HK1 HSPB1 HSPB3 HSPB8 IGHMBP2 IKBKAP INF2 KARS KIF1A KIF5A LAS1L LITAF LMNA LRSAM1 MARS MED25 MEGF10 MFN2 MPZ MTMR2 NDRG1 NEFL NGF NTRK1 PDK3 PLEKHG5 PMP22 PRPS1 PRX RAB7A REEP1 SBF1 SBF2 SCN9A SETX SH3TC2 SLC12A6 SLC5A7 SPTLC1 SPTLC2 TFG TRIM2 TRPV4 TTR WNK1 YARS _______________________________________________________________

COMPTON-NORTH CONGENITAL MYOPATHY _______________________________________________________________ 4579 CNTN1 $990 _______________________________________________________________

CONE DYSTROPHY AND CONE-ROD DYSTROPHY _______________________________________________________________ 1337 NEXTGEN PANEL $1,690 _______________________________________________________________ ABCA4 ADAM9 AIPL1 C21orf2 C8orf37 CABP4 CACNA1F CACNA2D4 CDHR1 CERKL CNGB3 CNNM4 CRX GUCA1A CUGY2D KCNV2 PDE6C PITPNM3 PROM1 PRPH2 RAX2 RDH5 RIMS1 RPGRIP1 SEMA4A UNC119 _______________________________________________________________

PUT US TO THE TEST

7


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

CONGENITAL ADRENAL HYPERPLASIA _______________________________________________________________

CONGENITAL DYSERYTHROPOIETIC ANEMIA _______________________________________________________________

1419 CYP21A2 $870 _______________________________________________________________

1933 NEXTGEN PANEL $1,440 _______________________________________________________________ C15orf41 CDAN1 GATA1 KLF1 SEC23B _______________________________________________________________

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA _______________________________________________________________ 437 MPL $710 _______________________________________________________________

CONGENITAL ERYTHROPOIETIC PORPHYRIA _______________________________________________________________

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT _______________________________________________________________

2037 UROS $750 _______________________________________________________________

495 DSTYK $1,020 _______________________________________________________________ 2667 NEXTGEN PANEL $2,690 _______________________________________________________________

CONGENITAL FACTOR XIII DEFICIENCY _______________________________________________________________ 2911 F13A1 $970 2912 F13B $970 _______________________________________________________________

ACE AGT AGTR1 ANOS1 BMP4 BMP7 CDC5L CHD1L DSTYK EYA1 FGF20 FGFR2 FRAS1 FREM1 FREM2 GATA3 GLI3 GRIP1 HNF1B HOXA13 HOXA4 HOXB6 HPSE2 ITGA8 LRP4 MUC1 MYH9 NIPBL PAX2 REN RET ROBO2 SALL1 SIX1 SIX2 SIX5 SOX17 TNXB TRAP1 UMOD UPK3A WNT4 _______________________________________________________________

CONGENITAL BILE ACID SYNTHESIS DEFECT _______________________________________________________________ 4081 ABCD3 $990 4071 HSD3B7 $990 _______________________________________________________________

CONGENITAL CATARACT _______________________________________________________________ 1983 NEXTGEN PANEL $1,840 _______________________________________________________________ AGK BFSP1 BFSP2 CHMP4B CRYAA CRYAB CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CTDP1 EPHA2 EYA1 FAM126A FOXE3 FYCO1 GALK1 GCNT2 GJA3 GJA8 HSF4 LIM2 MAF MIP MIR184 NHS P3H2 PAX6 PITX3 PXDN SIL1 SLC16A12 SLC33A1 TDRD7 VIM _______________________________________________________________

CONGENITAL CATARACTS FACIAL DYSMORPHISM NEUROPATHY _______________________________________________________________ 4865 CTDP1 $990 _______________________________________________________________

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME _______________________________________________________________ 1397 NEXTGEN PANEL $1,540 _______________________________________________________________ ASCL1 BDNF BMP2 EDN3 PHOX2A PHOX2B RET _______________________________________________________________

CONGENITAL CONTRACTURAL ARACHNODACTYLY _______________________________________________________________ 3151 FBN2 $990 _______________________________________________________________

CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIJ _______________________________________________________________ 1453 COG4 $1,100 _______________________________________________________________

CONGENITAL DISORDER OF GLYCOSYLATION TYPE IU AND SECONDARY DYSTROGLYCANOPATHY _______________________________________________________________ _______________________________________________________________

CONGENITAL DISORDERS OF GLYCOSYLATION _______________________________________________________________ 543 DPM3 $490 _______________________________________________________________ 540 SEQUENTIAL PANEL 1 $650 - $1,790 _______________________________________________________________ ALG6 MPI PMM2 _______________________________________________________________ 542 SEQUENTIAL PANEL 2 $540 - $3,370 _______________________________________________________________ ALG2 ALG3 ALG8 ALG12 DPM1 MPDU1 _______________________________________________________________

8

CONGENITAL FIBER TYPE DISPROPORTION _______________________________________________________________ 1371 NEXTGEN PANEL $1,690 _______________________________________________________________ ACTA1 LMNA MYH7 RYR1 SELENON TPM2 TPM3 _______________________________________________________________

CONGENITAL FIBRINOGEN DEFICIENCY

_______________________________________________________________ 1945 NEXTGEN PANEL $1,390 _______________________________________________________________ FGA FGB FGG _______________________________________________________________

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES _______________________________________________________________ 2019 TUBB3 $540 _______________________________________________________________

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES (OCULAR MOTILITY DISORDER) OR STRABISMUS SYNDROMES _______________________________________________________________ 2685 NEXTGEN PANEL $1,890 _______________________________________________________________ CHN1 ECEL1 HOXA1 HOXB1 KIF21A PHOX2A ROBO3 SALL4 TUBB2B TUBB3 _______________________________________________________________

CONGENITAL GENERALIZED LIPODYSTROPHY _______________________________________________________________ 463 SEQUENTIAL PANEL $660 - $1,440 _______________________________________________________________ AGPAT2 BSCL2 _______________________________________________________________ 5031 NEXTGEN PANEL $1,090 _______________________________________________________________ AGPAT2 BSCL2 CAV1 PTRF _______________________________________________________________

CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE 2 _______________________________________________________________ 1677 SLC4A11 $1,060 _______________________________________________________________

CONGENITAL HYPERINSULINISM _______________________________________________________________ 1939 NEXTGEN PANEL $1,490 _______________________________________________________________ ABCC8 GCK GLUD1 HADH HNF1A HNF4A KCNJ11 SLC16A1 UCP2 _______________________________________________________________

CONGENITAL HYPOTHYROIDISM AND NEONATAL DIABETES MELLITUS _______________________________________________________________ 4939 GLIS3 $990 _______________________________________________________________

CONGENITAL HYPOTHYROIDISM AND THYROID HORMONE RESISTANCE _______________________________________________________________ 1989 NEXTGEN PANEL $1,940 _______________________________________________________________ DUOX2 DUOXA2 FOXE1 GLIS3 GNAS HESX1 IGSF1 IYD NKX2-1 NKX2-5 PAX8 POU1F1 PROP1 SECISBP2 SLC16A2 SLC26A4 SLC5A5 TG THRA THRB TPO TRH TRHR TSHB TSHR UBR1 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

CONGENITAL ICHTHYOSIS AND RELATED DISORDERS _______________________________________________________________

CORNEAL DYSTROPHY _______________________________________________________________

4929 NEXTGEN PANEL $1,990 ABCA12 ABHD5 ALOX12B ALOXE3 AP1S1 CERS3 CLDN1 CYP4F22 KRT1 KRT10 KRT2 KRT9 LIPN NIPAL4 PNPLA1 POMP SLC27A4 ST14 TGM1 _______________________________________________________________

1680 TGFBI $1,020 _______________________________________________________________

CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS _______________________________________________________________ 2475 NTRK1 $990 _______________________________________________________________

CONGENITAL INTERSTITIAL LUNG DISEASE WITH NEPHROTIC SYNDROME AND EPIDERMOLYSIS BULLOSA _______________________________________________________________ 4595 ITGA3 $990 _______________________________________________________________

CONGENITAL METHEMOGLOBINEMIA _______________________________________________________________ 1714 CYB5R3 $750 _______________________________________________________________

CONGENITAL MUSCULAR DYSTROPHY _______________________________________________________________ 1418 POMK $540 _______________________________________________________________ 1301 NEXTGEN PANEL $2,140 _______________________________________________________________ B3GALNT2 B4GAT1 CHKB COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DMD DPM1 DPM2 DPM3 EMD FKRP FKTN GMPPB ISPD ITGA7 LAMA2 LARGE1 LMNA POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5 _______________________________________________________________

CONGENITAL MYASTHENIC SYNDROME _______________________________________________________________ 593 PLEC $2,420 _______________________________________________________________ 1323 NEXTGEN PANEL $1,690 _______________________________________________________________ AGRN CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 GFPT1 MUSK RAPSN SCN4A SNAP25 STIM1 _______________________________________________________________

CONGENITAL MYOPATHY _______________________________________________________________ 1365 NEXTGEN PANEL $2,190 _______________________________________________________________ ACTA1 BICD2 BIN1 CCDC78 CFL2 CNTN1 COL12A1 COL6A1 COL6A2 COL6A3 DNM2 KBTBD13 KLHL40 KLHL41 LMNA LMOD3 MEGF10 MICU1 MTM1 MYH7 MYO18B NEB RYR1 SELENON STAC3 TNNT1 TPM2 TPM3 TTN _______________________________________________________________

CONGENITAL NYSTAGMUS _______________________________________________________________ 1639 FRMD7 $940 _______________________________________________________________

CONGENITAL STATIONARY NIGHT BLINDNESS _______________________________________________________________ 4319 NEXTGEN PANEL $1,590 _______________________________________________________________ CABP4 CACNA1F CACNA2D4 CHM GNAT1 GPR179 GRM6 LRIT3 NYX PDE6B RDH5 RHO RPE65 SAG SLC24A1 TRPM1 _______________________________________________________________

CONGENITAL VARIANT RETT SYNDROME / FOXG1 SYNDROME _______________________________________________________________ 1637 FOXG1 $650 _______________________________________________________________

CORE MYOPATHY _______________________________________________________________

CORNEAL DYSTROPHIES _______________________________________________________________ 3029 NEXTGEN PANEL $1,840 _______________________________________________________________ AGBL1 CHST6 COL8A2 DCN KRT12 KRT3 PIKFYVE SLC4A11 TACSTD2 TGFBI UBIAD1 VSX1 ZEB1 _______________________________________________________________

CORNELIA DE LANGE SYNDROME _______________________________________________________________ 1955 NEXTGEN PANEL $1,790 _______________________________________________________________ AFF1 ANKRD11 HDAC8 KMT2A NIPBL RAD21 SMC1A SMC3 _______________________________________________________________

CORNELIA DE LANGE SYNDROME AND CORNELIA DE LANGE SYNDROME-RELATED DISORDERS _______________________________________________________________ 5449 NEXTGEN PANEL $2,290 _______________________________________________________________ AFF4 ANKRD11 ARHGAP31 ARID1A ARID1B CHD7 CREBBP CTCF DLL4 DOCK6 EOGT EP300 ESCO2 HDAC8 KDM1A KMT2A MED12 NIPBL NOTCH1 PHF6 RAD21 RBPJ SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SOX11 SRCAP TAF1 TAF6 WDR26 _______________________________________________________________

COSTELLO SYNDROME _______________________________________________________________ 140 HRAS $440 _______________________________________________________________

COWDEN SYNDROME _______________________________________________________________ 1699 PIK3CA $1,100 707 PTEN $810 _______________________________________________________________

CRANIOECTODERMAL DYSPLASIA _______________________________________________________________ 4853 IFT122 $990 4657 WDR35 $990 _______________________________________________________________

CRANIOFRONTONASAL SYNDROME _______________________________________________________________ 2297 EFNB1 $580 _______________________________________________________________

CRANIOSYNOSTOSIS _______________________________________________________________ 2956 IL11RA $870 959 MSX2 $490 _______________________________________________________________ 1957 NEXTGEN PANEL $1,540 _______________________________________________________________ FGFR1 FGFR2 FGFR3 TCF12 TWIST1 _______________________________________________________________

CREATINE DEFICIENCY SYNDROME _______________________________________________________________ 242 GAMT $610 241 GATM $690 1186 SLC6A8 $990 _______________________________________________________________

CRIGLER-NAJJAR SYNDROME _______________________________________________________________ 1594 UGT1A1 $680 _______________________________________________________________

CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES _______________________________________________________________ 4685 NLRP3 $990 _______________________________________________________________

1369 NEXTGEN PANEL $1,790 _______________________________________________________________ MEGF10 MYH7 RYR1 SELENON TTN _______________________________________________________________

PUT US TO THE TEST

9


TEST NAME

PRICE

CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL _______________________________________________________________

TEST NO.

TEST NAME

PRICE

DENT DISEASE _______________________________________________________________

1291 ATR $2,450 _______________________________________________________________

3269 NEXTGEN PANEL $1,440 _______________________________________________________________ CLCN5 OCRL _______________________________________________________________

CUTIS LAXA _______________________________________________________________

DENTAL ANOMALIES AND AMELOGENESIS IMPERFECTA _______________________________________________________________

1063 ALDH18A1 $1,020 1061 ATP6V0A2 $1,250 1062 EFEMP2 $750 4393 ELN $990 2101 LTBP4 $1,440 1066 PYCR1 $680 _______________________________________________________________

CYSTATHIONINURIA _______________________________________________________________ 879 CTH $810 _______________________________________________________________

CYSTIC FIBROSIS _______________________________________________________________ 3035 CFTR $1,290 _______________________________________________________________

CYSTINOSIS _______________________________________________________________ 1561 CTNS $910 1636 CTNS DELETION $490 _______________________________________________________________

CYSTINURIA _______________________________________________________________ 4345 NEXTGEN PANEL $1,390 _______________________________________________________________ SLC3A1 SLC7A9 _______________________________________________________________

CYSTOLIC PHOSPHENOLPYRUVATE CARBOXYLASE 1 DEFICIENCY _______________________________________________________________ 1432 PCK1 $840 _______________________________________________________________

D-2-HYDROXYGLUTARIC ACIDURIA TYPE I _______________________________________________________________ 4772 D2HGDH $810 _______________________________________________________________

D-2-HYDROXYGLUTARIC ACIDURIA TYPE II _______________________________________________________________ 119 IDH2 $370 _______________________________________________________________

DANON DISEASE _______________________________________________________________ 418 LAMP2 $690 _______________________________________________________________

DEAFNESS _______________________________________________________________ 2009 ACTG1 $540 4433 KITLG $750 _______________________________________________________________ 1363 NEXTGEN PANEL NONSYNDROMIC $1,690 _______________________________________________________________ CCDC50 CEACAM16 CIB2 CLDN14 COCH CRYM DFNB59 DIABLO DIAPH1 ESRRB EYA4 FGF3 GIPC3 GJB2 GJB3 GJB6 GPSM2 GRHL2 GRXCR1 HGF ILDR1 KCNQ4 LHFPL5 LOXHD1 LRTOMT MARVELD2 MSRB3 MYH14 MYH9 MYO15A MYO3A MYO6 OTOA OTOF POU4F3 PRPS1 RDX SERPINB6 SLC17A8 SLC26A5 SMPX TECTA TJP2 TMC1 TMIE TMPRSS3 TPRN TRIOBP _______________________________________________________________

DEMENTIA _______________________________________________________________ 4995 NEXTGEN PANEL $1,440 _______________________________________________________________ APP C9orf72 CHMP2B FUS GRN MAPT PSEN1 PSEN2 SQSTM1 TARDBP TREM2 TYROBP UBQLN2 _______________________________________________________________

10

2294 LTBP3 $1,560 _______________________________________________________________

DENTINOGENESIS IMPERFECTA AND DENTIN DYSPLASIA _______________________________________________________________ 771 DSPP $680 _______________________________________________________________

DERMOPATHY _______________________________________________________________ 400 ZMPSTE24 $710 _______________________________________________________________

DIABETES INSIPIDUS (NEPHROGENIC AND NEUROHYPOPHYSEAL) _______________________________________________________________ 3431 NEXTGEN PANEL $1,390 _______________________________________________________________ AQP2 AVP AVPR2 _______________________________________________________________

DIAMOND-BLACKFAN ANEMIA AND BONE MARROW FAILURE _______________________________________________________________ 2759 RPS17 $990 _______________________________________________________________

DIAPHANOSPONDYLODYSOSTOSIS _______________________________________________________________ 2879 BMPER $970 _______________________________________________________________

DIAS-LOGAN SYNDROME _______________________________________________________________ 3759 BCL11A $840 _______________________________________________________________

DIASTROPHIC DYSPLASIA _______________________________________________________________ 864 SLC26A2 $650 _______________________________________________________________

DICER1 SYNDROME _______________________________________________________________ 3041 DICER1 $990 _______________________________________________________________

DIHYDROPTERIDINE REDUCTASE DEFICIENCY _______________________________________________________________ 1867 QDPR $680 _______________________________________________________________

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY _______________________________________________________________ 4389 DPYD $990 _______________________________________________________________

DIHYDROPYRIMIDINASE DEFICIENCY _______________________________________________________________ 1858 DPYS $710 _______________________________________________________________

DILATED CARDIOMYOPATHY _______________________________________________________________ 1339 NEXTGEN PANEL $1,890 _______________________________________________________________ AABCC9 ACTC1 ACTN2 ANKRD1 BAG3 CAV3 CRYAB CSRP3 DES DMD DSC2 DSG2 DSP EMD EYA4 FHL2 FKTN GATAD1 ILK LAMA4 LAMP2 LDB3 LMNA MYBPC3 MYH6 MYH7 MYPN NEXN NKX2-5 PDLIM3 PKP2 PLN PRDM16 RAF1 RBM20 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL _______________________________________________________________

DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY _______________________________________________________________ 4331 DMGDH $1,590 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

DISORDERS OF FATTY ACID OXIDATION _______________________________________________________________

DISTAL HEREDITARY MOTOR OR SENSORY NEUROPATHY _______________________________________________________________

4981 NEXTGEN PANEL $1,440 _______________________________________________________________ ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAT1 CPT1A CPT2 DECR1 ECHS1 ETFA ETFB ETFDH FLAD1 HADH HADHA HADHB HMGCL HMGCS2 HSD17B10 LPIN1 MLYCD PPARG SLC22A5 SLC25A20 TAZ _______________________________________________________________

1359 NEXTGEN PANEL $1,740 _______________________________________________________________ ATP7A BICD2 BSCL2 DCTN1 DNAJB2 DYNC1H1 GAN GARS HINT1 HSPB1 HSPB3 HSPB8 IGHMBP2 LAS1L REEP1 SETX SIGMAR1 SLC5A7 SYT2 TRPV4 _______________________________________________________________

DISORDERS OF FOLATE METABOLISM AND TRANSPORT _______________________________________________________________ 4507 NEXTGEN PANEL $1,290 _______________________________________________________________ FOLR1 MTHFR SLC46A1 _______________________________________________________________

DISORDERS OF SEX DEVELOPMENT AND INFERTILITY _______________________________________________________________ 2669 NEXTGEN PANEL $2,240 _______________________________________________________________ AIRE AMH AMHR2 ANOS1 ARL6 ARX ATRX AURKC BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMP15 CATSPER1 CBX2 CFTR CHD7 CLPP CYP11A1 CYP17A1 CYP19A1 DHH DMRT1 DMRT2 DNAH1 EIF2B1 EIF2B3 EIF2B4 EIF2B5 FGF8 FGFR1 FGFR2 FIGLA FOXL2 FSHB FSHR GALNTL5 GALT GATA4 GNRH1 GNRHR HESX1 HFE HFM1 HS6ST1 HSD17B3 KISS1 KISS1R LEP LEPR LHCGR LHX3 LHX4 MAMLD1 MAP3K1 MCM8 MKKS NOBOX NPAS2 NR0B1 NR5A1 NSMF PCSK1 PICK1 POR PRLR PROK2 PROKR2 PROP1 RSPO1 SEMA3A SLC26A8 SOHLH1 SOX2 SOX3 SOX9 SPATA16 SRD5A2 SRY STAR TAC3 TACR3 TEX11 TRIM32 TTC8 WDR11 WNT4 WT1 WWOX ZP1 _______________________________________________________________

DISORDERS OF SEX DEVELOPMENT _______________________________________________________________ 4509 NEXTGEN PANEL $1,990 _______________________________________________________________ AMH AMHR2 ANOS1 AR ARL6 ARX ATRX BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CBX2 CHD7 CYP11A1 CYP17A1 CYP19A1 DHH DMRT1 DMRT2 FGF8 FGFR1 FGFR2 FOXL2 FSHB GATA4 GNRH1 GNRHR HESX1 HFE HS6ST1 HSD17B3 KISS1 KISS1R LEP LEPR LHCGR LHX3 LHX4 MAMLD1 MAP3K1 MKKS NR0B1 NR5A1 NSMF PCSK1 POR PROK2 PROKR2 PROP1 RSPO1 SEMA3A SOX2 SOX3 SOX9 SRD5A2 SRY STAR TAC3 TACR3 TRIM32 TTC8 WDR11 WNT4 WT1 WWOX _______________________________________________________________

DISORDERS RELATED TO METABOLISM OF COBALAMIN, FOLATE AND HOMOCYSTEINE _______________________________________________________________ 4505 NEXTGEN PANEL $1,590 _______________________________________________________________ ABCD4 ACSF3 AHCY ALDH6A1 AMN CBS CD320 CUBN FOLR1 GIF GNMT HCFC1 LMBRD1 MAT1A MCEE MLYCD MMAA MMAB MMACHC MMADHC MTHFR MTR MTRR MUT PCCA PCCB SLC46A1 SUCLA2 SUCLG1 TCN1 TCN2 _______________________________________________________________

DISTAL ARTHROGRYPOSIS _______________________________________________________________ 1999 NEXTGEN PANEL $2,690 _______________________________________________________________ CHST14 ECEL1 FBN2 MYBPC1 MYH3 MYH8 NALCN PIEZO2 TNNI2 TNNT3 TPM2 _______________________________________________________________

DISTAL HEREDITARY MYOPATHY _______________________________________________________________ 1351 NEXTGEN PANEL $1,690 _______________________________________________________________ ANO5 BAG3 CAV3 CRYAB DES DNAJB6 DYSF FHL1 FLNC GNE KLHL9 LDB3 MATR3 MYH7 MYOT SQSTM1 TCAP TIA1 TTN VCP _______________________________________________________________

DISTAL RENAL TUBULAR ACIDOSIS _______________________________________________________________ 2655 NEXTGEN PANEL $1,440 _______________________________________________________________ ATP6V0A4 ATP6V1B1 CA2 SLC4A1 _______________________________________________________________

DITRA _______________________________________________________________ 5079 IL36RN $990 _______________________________________________________________

DOORS SYNDROME _______________________________________________________________ 2125 TBC1D24 $750 _______________________________________________________________

DOPA-RESPONSIVE DYSTONIA _______________________________________________________________ 161 GCH1 $680 _______________________________________________________________

DOWLING-DEGOS DISEASE _______________________________________________________________ 978 KRT5 $780 _______________________________________________________________

DOYNE HONEYCOMB RETINAL DYSTROPHY _______________________________________________________________ 2018` EFEMP1 $810 _______________________________________________________________

DRASH SYNDROME/FRASIER SYNDROME _______________________________________________________________ 1003 WT1 $840 _______________________________________________________________

DUANE RETRACTION SYNDROME TYPE 2 _______________________________________________________________ 2781 CHN1 $910 _______________________________________________________________

DUBIN-JOHNSON SYNDROME _______________________________________________________________ 1591 ABCC2 $1,500 _______________________________________________________________

DYSKERATOSIS CONGENITA _______________________________________________________________ 3005 NEXTGEN PANEL $1,680 _______________________________________________________________ CTC1 DKC1 NHP2 NOP10 TERC TERT TINF2 WRAP53 _______________________________________________________________

DYSTROGLYCAN-RELATED CONGENITAL MUSCULAR DYSTROPHY _______________________________________________________________ 1303 NEXTGEN PANEL $1,790 _______________________________________________________________ B3GALNT2 B4GAT1 DAG1 DPM1 DPM2 DPM3 FKRP FKTN GMPPB GOSR2 ISPD LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5 _______________________________________________________________

DYSTROGLYCANOPATHY _______________________________________________________________ 1492 GMPPB $610 1418 POMK $540 _______________________________________________________________

PUT US TO THE TEST

11


TEST NAME

PRICE

DYSTONIA _______________________________________________________________ 3017 NEXTGEN PANEL $2,100 _______________________________________________________________ ANO3 ATP1A3 GCH1 GNAL PNKD PRKRA PRRT2 SGCE SLC2A1 SPR TAF1 TH THAP1 TOR1A TUBB4A _______________________________________________________________

DYSTROPHINOPATHY DUCHENNE AND BECKER MUSCULAR DYSTROPHY _______________________________________________________________ 1773 DMD $990 1200 DMD Del/Dup $690 _______________________________________________________________

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY _______________________________________________________________ 2154 HCN1 $910 2156 KCNA2 $580 _______________________________________________________________

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY OR KOHLSCHÜTTER-TÖNZ SYNDROME

_______________________________________________________________ 2157 SLC13A5 $840 _______________________________________________________________

EARLY-ONSET ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1 _______________________________________________________________ 1732 APTX $750 _______________________________________________________________

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY _______________________________________________________________ 1961 NEXTGEN PANEL $1,490 _______________________________________________________________ ACY1 ADSL ALDH7A1 ARFGEF2 ARHGEF9 ARX BCKDK CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 CLN3 CLN5 CLN6 CLN8 CNTNAP2 CSTB CTSD CTSF DEPDC5 EPM2A FARS2 FOLR1 FOXG1 GABRA1 GABRB3 GABRG2 GAMT GNAO1 GOSR2 GRIN2A HCN1 KCNA2 KCNB1 KCNJ10 KCNQ2 KCNQ3 KCNT1 KCTD7 LGI1 MBD5 MECP2 MEF2C MFSD8 NHLRC1 NPRL2 NRXN1 PCDH19 PIGO PLCB1 PNKP PNPO POLG PPT1 PRRT2 RELN ROGDI SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC13A5 SLC19A3 SLC25A22 SLC2A1 SLC35A2 SLC9A6 SPTAN1 ST3GAL3 ST3GAL5 STX1B STXBP1 SZT2 TBC1D24 TNK2 TPP1 WWOX _______________________________________________________________

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY: DOMINANT AND X-LINKED _______________________________________________________________ 1321 NEXTGEN PANEL $1,290 _______________________________________________________________ ARHGEF9 ARX CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 DEPDC5 FOXG1 GABRA1 GABRB3 GABRG2 GNAO1 GRIN2A HCN1 KCNA2 KCNB1 KCNQ2 KCNQ3 KCNT1 LGI1 MBD5 MECP2 MEF2C NPRL2 PCDH19 PRRT2 RELN SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC9A6 SPTAN1 STX1B STXBP1 _______________________________________________________________

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, RECESSIVE _______________________________________________________________ 1905 NEXTGEN PANEL $1,290 _______________________________________________________________ ACY1 ADSL ALDH7A1 ARFGEF2 BCKDK CLN3 CLN5 CLN6 CLN8 CNTNAP2 CSTB CTSD CTSF EPM2A FARS2 FOLR1 GAMT GOSR2 KCNJ10 KCTD7 MFSD8 NHLRC1 NRXN1 PIGO PLCB1 PNKP PNPO POLG PPT1 ROGDI SCARB2 SLC19A3 SLC25A22 ST3GAL3 ST3GAL5 SZT2 TBC1D24 TNK2 TPP1 WWOX _______________________________________________________________

12

TEST NO.

TEST NAME

PRICE

EARLY-ONSET MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS AND DYSPHAGIA _______________________________________________________________ 4805 MEGF10 $990 _______________________________________________________________

EARLY-ONSET PRIMARY DYSTONIA (DYT1) _______________________________________________________________ 166 TOR1A $580 _______________________________________________________________

ECTODERMAL DYSPLASIA _______________________________________________________________ 836 ESCO2 $830 2732 MSX1 $580 968 PKP1 $840 834 TP63 $870 _______________________________________________________________ 3433 NEXTGEN PANEL $1,440 _______________________________________________________________ EDA EDAR EDARADD KRT85 NECTIN1 WNT10A _______________________________________________________________

ECTOPIA LENTIS 2 _______________________________________________________________ 1542 ADAMTSL4 $1,190 _______________________________________________________________

EHLERS-DANLOS SYNDROME _______________________________________________________________ 843 TNXB $1,990 877 TNXB - Exon 35 $250 _______________________________________________________________ 1391 NEXTGEN PANEL $1,890 _______________________________________________________________ ADAMTS2 ATP7A B3GALT6 B3GAT3 B4GALT7 CHST14 CHST3 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14 FLNA FLNB PLOD1 SLC39A13 ZNF469 _______________________________________________________________

EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSIS, MYOPTHY AND HEARING LOSS _______________________________________________________________ 1614 FKBP14 $580 _______________________________________________________________

ELLIS-VAN CREVELD SYNDROME _______________________________________________________________ 3427 NEXTGEN PANEL $1,490 _______________________________________________________________ EVC EVC2 _______________________________________________________________

EMBERGER SYNDROME _______________________________________________________________ 286 GATA2 $680 _______________________________________________________________

EMERY-DREIFUSS MUSCULAR DYSTROPHY _______________________________________________________________ 592 EMD $550 1039 FHL1 $680 347 LMNA $610 366 MYOT $680 _______________________________________________________________

EPIDERMOLYSIS BULLOSA AND RELATED DISORDERS _______________________________________________________________ 3003 NEXTGEN PANEL $1,830 _______________________________________________________________ COL17A1 COL7A1 DSP DST FERMT1 ITGA6 ITGB4 JUP KRT14 KRT5 LAMA3 LAMB3 LAMC2 PKP1 PLEC _______________________________________________________________

EPIDERMOLYTIC HYPERKERATOSIS _______________________________________________________________ 2097 KRT1 $910 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

EPILEPSY _______________________________________________________________

EPSTEIN SYNDROME _______________________________________________________________

4415 SCN3A $1,780 _______________________________________________________________ 1321 NEXTGEN PANEL - EARLY EPILEPTIC $1,790 _______________________________________________________________ ENCEPHALOPATHY DOMINANT AND X-LINKED ARHGEF9 ARX CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 DEPDC5 FOXG1 GABRA1 GABRB3 GABRG2 GNAO1 GRIN2A HCN1 KCNA2 KCNB1 KCNQ2 KCNQ3 KCNT1 LGI1 MBD5 MECP2 MEF2C NPRL2 PCDH19 PRRT2 RELN SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC9A6 SPTAN1 STX1B STXBP1 _______________________________________________________________ 1905 NEXTGEN PANEL - EARLY INFANTILE $1,690 _______________________________________________________________ EPILEPTIC ENCEPHALOPATHY, RECESSIVE ACY1 ADSL ALDH7A1 ARFGEF2 BCKDK CLN3 CLN5 CLN6 CLN8 CNTNAP2 CSTB CTSD CRSF EPM2A FARS2 FOLR1 GAMT GOSR2 KCNJ10 KCTD7 MFSD8 NHLRC1 NRXN1 PIGO PLCB1 PNKP PNPO POLG PPT1 ROGDI SCARB2 SLC19A3 SLC25A22 ST3GAL3 ST3GAL5 SZT2 TBC1D24 TNK2 TPP1 WWOX _______________________________________________________________ 1961 NEXTGEN PANEL - EARLY INFANTILE $1,890 _______________________________________________________________ EPILEPTIC ENCEPHALOPATHY, COMPREHENSIVE ACY1 ADSL ALDH7A1 ARFGEF2 ARHGEF9 ARX BCKDK CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 CLN3 CLN5 CLN6 CLN8 CNTNAP2 CSTB CTSD CTSF DEPDC5 EPM2A FARS2 FOLR1 FOXG1 GABRA1 GABRB3 GABRG2 GAMT GNAO1 GOSR2 GRIN2A HCN1 KCNA2 KCNB1 KCNJ10 KCNQ2 KCNQ3 KCNT1 KCTD7 LGI1 MBD5 MECP2 MEF2C MFSD8 NHLRC1 NPRL2 NRXN1 PCDH19 PIGO PLCB1 PNKP PNPO POLG PPT1 PRRT2 RELN ROGDI SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC13A5 SLC19A3 SLC25A22 SLC2A1 SLC35A2 SLC9A6 SPTAN1 ST3GAL3 ST3GAL5 STX1B STXBP1 SZT2 TBC1D24 TNK2 TPP1 WWOX _______________________________________________________________

3037 MYH9 $990 441 MYH9 Tier 1 $890 442 MYH9 Tier 2 $1,270 _______________________________________________________________

EPILEPSY: DRAVET SYNDROME _______________________________________________________________ 2659 NEXTGEN PANEL $990 _______________________________________________________________ CHD2 GABRA1 GABRG2 PCDH19 SCN1A SCN1B SCN2A SCN9A STXBP1 _______________________________________________________________

EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS _______________________________________________________________ 2476 SYN1 $840 _______________________________________________________________

EPILEPSY: OHTAHARA SYNDROME _______________________________________________________________ 2639 NEXTGEN PANEL $1,690 _______________________________________________________________ ARX CDKL5 KCNQ2 KCNT1 PNKP SCN2A SLC25A22 SPTAN1 STXBP1 _______________________________________________________________

EPILEPSY WITH FEBRILE SEIZURES PLUS _______________________________________________________________ 2635 NEXTGEN PANEL $990 _______________________________________________________________ GABRG2 SCN1A SCN1B SCN2A SCN9A _______________________________________________________________

EPIMERASE DEFICIENCY GALACTOSEMIA _______________________________________________________________ 1449 GALE $810 _______________________________________________________________

EPISODIC PAIN SYNDROME _______________________________________________________________ 3447 NEXTGEN PANEL $1,440 _______________________________________________________________ SCN10A SCN11A SCN9A _______________________________________________________________

ERYTHROPOIETIC PROTOPORPHYRIA _______________________________________________________________ 1691 FECH $840 _______________________________________________________________

ETHYLMALONIC ENCEPHALOPATHY _______________________________________________________________ 1232 ETHE1 $810 _______________________________________________________________

FABRY DISEASE _______________________________________________________________ 471 GLA $610 _______________________________________________________________

FACIAL DYSOSTOSIS RELATED DISORDERS _______________________________________________________________ 1973 NEXTGEN PANEL $1,690 _______________________________________________________________ CREBBP DHODH EFTUD2 EP300 FGFR1 FGFR2 FGFR3 HDAC8 NIPBL POLR1C POLR1D RAD21 SF3B4 SMC1A SMC3 SRCAP TCF12 TCOF1 TWIST1 _______________________________________________________________

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY _______________________________________________________________ 3055 SMCHD1 $990 _______________________________________________________________

FACTOR V DEFICIENCY _______________________________________________________________ 3183 F5 $1,290 _______________________________________________________________

FACTOR VII DEFICIENCY _______________________________________________________________ 2127 F7 $750 _______________________________________________________________

FAMILIAL ADENOMATOUS POLYPOSIS (FAP) _______________________________________________________________ 3115 APC $1,090 _______________________________________________________________

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME _______________________________________________________________ 4199 NLRP12 $990 _______________________________________________________________

FAMILIAL DIGITAL ARTHROPATHY WITH BRACHYDACTYLY _______________________________________________________________ 833 TRPV4 $890 _______________________________________________________________

FAMILIAL DYSAUTONOMIA _______________________________________________________________ 4941 IKBKAP $990 847 IKBKAP Targeted $440 _______________________________________________________________

FAMILIAL EPISODIC PAIN TYPE 2 SYNDROME _______________________________________________________________ 4651 SCN10A $990 4855 SCN11A $990 _______________________________________________________________

FAMILIAL EXPANSILE OSTEOLYSIS _______________________________________________________________ 854 TNFRSF11A $790 _______________________________________________________________

FAMILIAL EXUDATIVE VITREORETINOPATHY _______________________________________________________________ 1068 FZD4 $580 4647 KIF11 $990 1069 TSPAN12 $680 _______________________________________________________________

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI _______________________________________________________________ 4387 DEPDC5 $990 _______________________________________________________________

PUT US TO THE TEST

13


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

FAMILIAL GI STROMAL TUMORS (GISTS) _______________________________________________________________

FANCONI BICKEL SYNDROME _______________________________________________________________

4697 KIT $990 1201 PDGFRA $1,280 _______________________________________________________________

170 SLC2A2 $750 _______________________________________________________________

FAMILIAL HEMIPLEGIC MIGRAINE _______________________________________________________________ 3445 NEXTGEN PANEL $1,640 _______________________________________________________________ ATP1A2 CACNA1A PRRT2 SCN1A _______________________________________________________________

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS _______________________________________________________________ 216 PRF1 $590 _______________________________________________________________ 1921 NEXTGEN PANEL $1,440 _______________________________________________________________ PRF1 RAB27A SH2D1A STX11 STXBP2 UNC13D XIAP _______________________________________________________________

FAMILIAL HYPERCHOLESTEROLEMIASIS _______________________________________________________________ 3271 NEXTGEN PANEL $1,390 _______________________________________________________________ APOB LDLR LDLRAP1 PCSK9 _______________________________________________________________

FAMILIAL ISOLATED PITUITARY ADENOMAS _______________________________________________________________ 1225 AIP $680 _______________________________________________________________

FAMILIAL JUVENILE HYPERURICAEMIC NEPHROPATHY _______________________________________________________________ 1681 UMOD $910 _______________________________________________________________

FAMILIAL MEDITERRANEAN FEVER _______________________________________________________________ 1555 MEFV $910 _______________________________________________________________

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY _______________________________________________________________ 2199 LPL $750 _______________________________________________________________

FAMILIAL MEDULLARY THYROID CARCINOMA _______________________________________________________________ 792 RET Tier 1 $590 793 RET Tier 2 $960 _______________________________________________________________

FAMILIAL MENINGIOMA _______________________________________________________________ 1702 SMARCE1 $870 _______________________________________________________________

FAMILIAL PITYRIASIS RUBRA PILARIS _______________________________________________________________ 5085 CARD14 $990 _______________________________________________________________

FAMILIAL PLATELET FUNCTION DISORDER _______________________________________________________________ 4163 GP6 $990 _______________________________________________________________

FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION (TAAD) _______________________________________________________________ 5251 NEXTGEN PANEL $1,590 _______________________________________________________________ ACTA2 COL3A1 FBN1 MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD3 TGFB2 TGFBR1 TGFBR2 _______________________________________________________________

FANCONI ANEMIA _______________________________________________________________ 1217 NEXTGEN PANEL $1,990 _______________________________________________________________ BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51 RAD51C SLX4 UBE2T _______________________________________________________________

14

FARBER LIPOGRANULOMATOSIS _______________________________________________________________ 481 ASAH1 $840 _______________________________________________________________

FAZIO-LONDE DISEASE _______________________________________________________________ 920 SLC52A2 $440 _______________________________________________________________

FBXL4-RELATED MITOCHONDRIAL DNA DEPLETION SYNDROME _______________________________________________________________ 2913 FBXL4 $680 _______________________________________________________________

FECHTNER SYNDROME _______________________________________________________________ 3037 MYH9 $990 441 MYH9 Tier 1 $890 442 MYH9 Tier 2 $1,270 _______________________________________________________________

FETAL CONCERNS SEQUENCING PANEL _______________________________________________________________ 4777 NEXTGEN PANEL $1,590 _______________________________________________________________ BRAF CBL CHRNA1 CHRND CHRNG CTSA DHCR7 DOK7 GALNS GBA GLB1 GLE1 GNPTAB GUSB HRAS IDUA KAT6B KCNH2 KCNQ1 KLHL40 KRAS LIPA MAP2K1 MAP2K2 MUSK NRAS PEX1 PEX10 PEX12 PEX26 PEX6 PTPN11 RAF1 RAPSN RIT1 SCN5A SHOC2 SLC17A5 SOS1 SUMF1 _______________________________________________________________

FETAL HYDROLETHALUS _______________________________________________________________ 3169 KIF7 $990 _______________________________________________________________

FGFR1-RELATED DISORDERS _______________________________________________________________ 498 FGFR1 $990 _______________________________________________________________

FGFR2-RELATED DISORDERS _______________________________________________________________ 4667 FGFR2 $990 _______________________________________________________________

FIBROCHONDROGENESIS _______________________________________________________________ 3155 COL11A1 $990 _______________________________________________________________

FIBRODYSPLASIA OSSFICANS PROGRESSIVA _______________________________________________________________ 609 ACVR1 $840 _______________________________________________________________

FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY _______________________________________________________________ 852 GDF5 $520 _______________________________________________________________

FISH-EYE DISEASE _______________________________________________________________ 2012 LCAT $650 _______________________________________________________________

FLECKED RETINA DISORDER _______________________________________________________________ 4321 NEXTGEN PANEL $1,790 _______________________________________________________________ ABCA4 CHM EFEMP1 ELOVLA LRAT PLA2G5 PROM1 PRPH2 RDH5 RHO RLBP1 RS1 VPS13B _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

FLOATING HARBOR SYNDROME _______________________________________________________________

GAUCHER DISEASE _______________________________________________________________

1959 NEXTGEN PANEL $1,490 _______________________________________________________________ CREBBP EP300 SRCAP _______________________________________________________________

479 GBA (includes c.1265-1317 del55) $850 _______________________________________________________________

FOCAL DERMAL HYPOPLASIA _______________________________________________________________

2005 ANTXR1 $1,100 _______________________________________________________________

958 PORCN $870 _______________________________________________________________

FOCAL EPILEPSY WITH SPEECH DISORDER WITH OR WITHOUT INTELLECTUAL DISABILITY _______________________________________________________________ 4167 GRIN2A $990 _______________________________________________________________

FOCAL SEGMENTAL GLOMERULOSCLEROSIS _______________________________________________________________ 4547 ACTN4 $990 4627 ANLN $990 _______________________________________________________________

FRAGILE X SYNDROME _______________________________________________________________ 483 FMR1 $1,130 _______________________________________________________________

FRAGILE X SYNDROME OR PREMATURE OVARIAN FAILURE (POF1) _______________________________________________________________ 558 FMR1 CGG Repeat Expansion $390 _______________________________________________________________

FRASER SYNDROME _______________________________________________________________ 2651 NEXTGEN PANEL $1,490 _______________________________________________________________ FRAS1 FREM1 FREM2 GRIP1 _______________________________________________________________

FRONTONASAL DYSPLASIA _______________________________________________________________

GAPO SYNDROME _______________________________________________________________ GELATINOUS DROP-LIKE CORNEAL DYSTROPHY _______________________________________________________________ 1819 TACSTD2 $540 _______________________________________________________________

GERODERMA OSTEODYSPLASTICUM _______________________________________________________________ 1260 GORAB $680 _______________________________________________________________

GIANT AXONAL NEUROPATHY _______________________________________________________________ 918 GAN $840 _______________________________________________________________

GILBERT SYNDROME _______________________________________________________________ 1594 UGT1A1 $680 _______________________________________________________________

GITELMAN SYNDROME _______________________________________________________________ 4503 SLC12A3 $990 _______________________________________________________________

GLANZMANN’S THROMBASTHENIA _______________________________________________________________ 2605 NEXTGEN PANEL $1,640 _______________________________________________________________ ITGA2B ITGB3 _______________________________________________________________

GLAUCOMA _______________________________________________________________

2870 ALX3 $610 _______________________________________________________________

1544 CYP1B1 $650 _______________________________________________________________ 1993 NEXTGEN PANEL $1,940 _______________________________________________________________

FRONTOTEMPORAL DEMENTIA _______________________________________________________________

COL4A1 CYP1B1 FOXC1 LMX1B LTBP2 MFRP MYOC OPTN PAX6 PITX2 SH3PXD2B WDR36 _______________________________________________________________

1965 NEXTGEN PANEL $1,540 _______________________________________________________________ ANG ARHGEF28 C9orf72 CDH13 CHMP2B FUS GRN hnRNPA1 hnRNPA2B1 MAPT OPTN PFN1 PSEN1 PSEN2 SOD1 SQSTM1 TARDBP TREM2 UBQLN2 VABP VCP _______________________________________________________________

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY _______________________________________________________________ 238 FBP1 $610 _______________________________________________________________

FTO-DEFICIENCY SYNDROME _______________________________________________________________ 5634 FTO $910 _______________________________________________________________

FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY _______________________________________________________________ 354 FKTN - Founder Muation $250 _______________________________________________________________

FUNDUS ALBIPUNCTATUS WITH OR WITHOUT CONE DYSTROPHY _______________________________________________________________ 2527 RDH5 $610 _______________________________________________________________

FUMARASE DEFICIENCY _______________________________________________________________ 1286 FH $750 _______________________________________________________________

GALACTOSEMIA _______________________________________________________________ 201 GALT $650 2310 GALT 5.5 KB deletion $490 1448 GALK1 $650 _______________________________________________________________

GLOBOZOOSPERMIA _______________________________________________________________ 1740 SPATA16 $780 _______________________________________________________________

GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS _______________________________________________________________ 5029 FN1 $990 _______________________________________________________________

GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY _______________________________________________________________ 1717 GPI $1,060 _______________________________________________________________

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY _______________________________________________________________ 1259 G6PD $810 _______________________________________________________________

GLUTATHIONE SYNTHETASE DEFICIENCY _______________________________________________________________ 1233 GSS $910 _______________________________________________________________

GLUT1 DEFICIENCY SYNDROME _______________________________________________________________ 1446 SLC2A1 $750 _______________________________________________________________

GLUTARIC ACIDEMIA _______________________________________________________________ 210 GCDH $790 _______________________________________________________________ 3405 NEXTGEN PANEL $1,440 _______________________________________________________________ ETFA ETFB ETFDH _______________________________________________________________

PUT US TO THE TEST

15


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

GLYCINE ENCEPHALOPATHY _______________________________________________________________

HAY-WELLS SYNDROME _______________________________________________________________

1209 AMT $750 1261 GLDC $1,250 _______________________________________________________________

834 TP63 $870 _______________________________________________________________

GLYCINE N-METHYLTRANSFERASE DEFICIENCY _______________________________________________________________ 2191 GNMT $750 _______________________________________________________________

GLYCOGEN STORAGE DISEASES _______________________________________________________________ 234 GAA Exon 18 deletion $490 418 LAMP2 $690 _______________________________________________________________ 1381 NEXTGEN PANEL $1,890 _______________________________________________________________ AGL ALDOA ALDOB ENO3 G6PC GAA GBE1 GYG1 GYS1 GYS LAMP2 LDHA PC PCK1 PCK2 PFKM PGAM2 PGM1 PHKA1 PHKA2 PHKB PHKG2 PRKAG2 PYGL PYGM SLC16A1 SLC2A2 SLC37A4 _______________________________________________________________

GM1 GANGLIOSIDOSIS _______________________________________________________________ 477 GLB1 $870 _______________________________________________________________

GM2 GANGLIOSIDOSIS _______________________________________________________________ 478 GM2A $370 _______________________________________________________________

GM3 SYNTHASE DEFICIENCY _______________________________________________________________ 2088 ST3GAL5 $680 _______________________________________________________________

GNAS-RELATED DISORDERS _______________________________________________________________ 2175 GNAS $910 _______________________________________________________________

GNATHODIAPHYSEAL DYSPLASIA _______________________________________________________________ 856 ANO5 $1,090 _______________________________________________________________

GOLDERG-SHPRINTZEN MEGACOLON SYNDROME _______________________________________________________________ 1568 KIF1BP $810 _______________________________________________________________

GRACILE SYNDROME _______________________________________________________________ 1562 BCS1L $650 _______________________________________________________________

GRAY PLATELET SYNDROME _______________________________________________________________ 4987 NBEAL2 $990 _______________________________________________________________

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME _______________________________________________________________ 380 GLI3 $1,020 _______________________________________________________________

GRISCELI SYNDROME _______________________________________________________________ 213 RAB27A $540 _______________________________________________________________

GYRATE ATROPHY OF CHOROID AND RETINA _______________________________________________________________ 1184 OAT $810 _______________________________________________________________

HAIM-MUNK SYNDROME _______________________________________________________________ 772 CTSC $770 _______________________________________________________________

HAJDU-CHENEY SYNDROME _______________________________________________________________

HEARING LOSS AND DEAFNESS _______________________________________________________________ See Deafness _______________________________________________________________

HELSMOORTEL-VAN DER AA SYNDROME _______________________________________________________________ 3756 ADNP $990 _______________________________________________________________

HEMIPLEGIC MIGRAINE _______________________________________________________________ 1782 PRRT2 $540 _______________________________________________________________

HEMOCHROMATOSIS _______________________________________________________________ 1967 NEXTGEN PANEL $1,490 _______________________________________________________________ FTH1 FTL HAMP HFE HFE2 SLC40A1 TFR2 _______________________________________________________________

HEMOGLOBINOPATHY _______________________________________________________________ 1088 HBB $490 _______________________________________________________________

HEMOPHILIA A _______________________________________________________________ 3077 F8 $990 _______________________________________________________________

HEMOPHILIA B _______________________________________________________________ 1577 F9 $750 _______________________________________________________________

HEMOPHILIA C _______________________________________________________________ 239 F11 $870 _______________________________________________________________

HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME _______________________________________________________________ 284 CCBE1 $750 _______________________________________________________________

HEPATOERYTHROPOIETIC PORPHYRIA _______________________________________________________________ 775 UROD $680 _______________________________________________________________

HEREDITARY ANGIOEDEMA _______________________________________________________________ 1884 SERPING1 $750 _______________________________________________________________

HEREDITARY BREAST/OVARIAN CANCER _______________________________________________________________ 1949 NEXTGEN AND DEL/DUP $990 _______________________________________________________________ BRCA1 BRCA2 _______________________________________________________________ 1307 NEXTGEN PANEL - $1,190 HBOC EXPANDED WITH DEL/DUP _______________________________________________________________ ATM BARD1 BRCA1 BRCA2 BRIP1 CHD1 CHEK2 MRE11 MUTYH NBN PALB2 PMS2 PTEN RAD50 RAD51C RAD51D SMARCA4 STK11 TP53 XRCC2 _______________________________________________________________ 1305 NEXTGEN PANEL - $1,090 HBOC HIGH RISK WITH DEL/DUP _______________________________________________________________ BRCA1 BRCA2 CDH1 PALB2 PTEN RAD51C STK11 TP53 _______________________________________________________________

3011 NOTCH2 $990 _______________________________________________________________

16



TEST NAME

PRICE

HEREDITARY CANCER _______________________________________________________________ 1355 NEXTGEN PANEL WITH DEL/DUP $1,390 _______________________________________________________________ APC ATM BAP1 BLM BMPR1A BRCA1 BRCA2 BRIP1 BUB1B CDH1 CDK4 CDKN2A CHEK2 DICER1 EPCAM KIT MEN1 MET MLH1 MSH2 MSH6 MUTYH NBN NF1 PALB2 PMS2 PPM1D PTEN RAD51C RAD51D SMAD4 STK11 TP53 VHL WT1 _______________________________________________________________

HEREDITARY COPROPORPHYRIA _______________________________________________________________ 1769 CPOX $780 _______________________________________________________________

HEREDITARY DIFFUSE GASTRIC CANCER _______________________________________________________________ 798 CDH1 $960 _______________________________________________________________

HEREDITARY FOLATE MALABSORPTION _______________________________________________________________ 3374 SLC46A1 $650 _______________________________________________________________

HEREDITARY FRUCTOSE INTOLERANCE _______________________________________________________________ 2204 ALDOB Tier 1 $370 2205 ALDOB Tier 2 $650 517 ALDOB $710 _______________________________________________________________

HEREDITARY HEMOCHROMATOSIS _______________________________________________________________ 1967 NEXTGEN PANEL $1,490 _______________________________________________________________ FTH1 FTL HAMP HFE HFE2 SLC40A1 TFR2 _______________________________________________________________

HEREDITARY HEMORRHAGIC TELANGIECTASIA _______________________________________________________________ 3273 NEXTGEN PANEL $1,440 ACVRL1 ENG SMAD4 _______________________________________________________________

HEREDITARY MIXED POLYPOSIS SYNDROME _______________________________________________________________ 2328 GREM1 $490 _______________________________________________________________

HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB _______________________________________________________________ 1794 RAB7A $580 _______________________________________________________________

HEREDITARY MULTIPLE OSTEOCHONDROMAS _______________________________________________________________ 3275 NEXTGEN PANEL $1,390 _______________________________________________________________ EXT1 EXT2 _______________________________________________________________

HEREDITARY MYELODYSPLASTIC SYNDROME (MDS) / ACUTE MYELOID LEUKEMIA (AML) _______________________________________________________________ 2619 NEXTGEN PANEL $1,690 _______________________________________________________________ ANKRD26 CEBPA DDX41 ETV6 GATA2 RUNX1 SRP72 TERC TERT TP53 _______________________________________________________________

HEREDITARY NON-POLYPOSIS COLORECTAL CANCER / LYNCH SYNDROME _______________________________________________________________ 705 MLH3 $1,120 _______________________________________________________________ 1325 NEXTGEN PANEL WITH DEL/DUP $990 _______________________________________________________________ EPCAM MLH1 MSH2 MSH6 PMS2 _______________________________________________________________

TEST NO.

TEST NAME

PRICE

HEREDITARY PARAGANGLIOMAPHEOCHROMOCYTOMA SYNDROME _______________________________________________________________ 1329 NEXTGEN PANEL $1,490 _______________________________________________________________ FH MAX MEN1 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127 VHL _______________________________________________________________

HEREDITARY POLYPOSIS _______________________________________________________________ 5465 NEXTGEN PANEL $790 _______________________________________________________________ APC MUTYH POLD1 POLE _______________________________________________________________

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY _______________________________________________________________ 3443 NEXTGEN PANEL $1,790 _______________________________________________________________ ATL1 ATL3 CCT5 DNMT1 DST FAM134B IKBKAP KIF1A NGF NTRK1 POLG PRDM12 RAB7A SCN11A SCN9A SPTLC1 SPTLC2 WNK1 _______________________________________________________________

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE VII _______________________________________________________________ 4855 SCN11A $990 _______________________________________________________________

HEREDITARY SPHEROCYTOSIS _______________________________________________________________ 1387 NEXTGEN PANEL $1,490 _______________________________________________________________ ANK1 EPB41 EPB42 SLC4A1 SPTA1 SPTB _______________________________________________________________

HEREDITARY XEROCYTOSIS _______________________________________________________________ 2641 NEXTGEN PANEL $1,490 _______________________________________________________________ KCNN4 PIEZO1 _______________________________________________________________

HERMANSKY-PUDLAK SYNDROME _______________________________________________________________ 759 HPS3 Exon 1 deletion $2,50 _______________________________________________________________ 1915 NEXTGEN PANEL $1,490 _______________________________________________________________ AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4 HPS5 HPS6 _______________________________________________________________

HESX1-RELATED DISORDERS _______________________________________________________________ 2520 HESX1 $580 _______________________________________________________________

HETEROTAXY / SITUS INVERSUS AND KARTAGENER’S SYNDROME _______________________________________________________________ 1060 NEXTGEN PANEL $2,140 _______________________________________________________________ ACVR2B AK7 ANKS6 ARMC4 C21orf59 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CFAP53 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH11 DNAH5 DNAI1 DNAI2 DNAL1 FOXH1 GAS8 GDF1 INVS LEFTY2 LRRC6 MMP21 NKX2-5 NME8 NODAL PIH1D3 SPAG1 TTC25 ZIC3 ZMYND10 _______________________________________________________________

HIRSCHSPRUNG DISEASE _______________________________________________________________ 1564 EDN3 $580 1572 EDNRB $680 1566 GDNF $540 778 NRTN $490 4673 RET $990 _______________________________________________________________ 1913 NEXTGEN PANEL $1,690 _______________________________________________________________ ECE1 EDN3 EDNRB GDNF NRTN RET _______________________________________________________________

PUT US TO THE TEST

17


TEST NAME

PRICE

HIRSCHSPRUNG DISEASE, CARDIAC DEFE AND AUTONOMIC DYSFUNCTION _______________________________________________________________ 4663 ECE1 $990 _______________________________________________________________

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY _______________________________________________________________ 521 HLCS $710 _______________________________________________________________

HOLOPROSENCEPHALY _______________________________________________________________ 2661 AUTOSOMAL DOMINANT, $1,540 _______________________________________________________________ NONSYNDROMIC, SEQUENCING PANEL CDON DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH SIX3 TDGF1 TGIF1 ZIC2 _______________________________________________________________

HOLT-ORAM DISEASE _______________________________________________________________ 785 TBX5 $710 _______________________________________________________________

HOMOCYSTINURIA _______________________________________________________________ 5067 CBS $990 4363 MTR $990 4809 MTRR $990 _______________________________________________________________ 3277 NEXTGEN PANEL $1,440 _______________________________________________________________ CBS MMADHC MTHFR MTR MTRR _______________________________________________________________

HOYERAAL-HREIDARSSON SYNDROME _______________________________________________________________ 1121 DKC1 $1,020 _______________________________________________________________

HPRT-RELATED HYPERURICEMIA AND GOUT _______________________________________________________________ 1824 HPRT1 $780 _______________________________________________________________

HUNTINGTON DISEASE _______________________________________________________________ 2299 HTT CAG Repeat Expansion $250 _______________________________________________________________

HUTCHINSON-GILFORD PROGERIA SYNDROME _______________________________________________________________ 347 LMNA $610 _______________________________________________________________

HYDROCEPHALUS _______________________________________________________________ 304 L1CAM $1,220 _______________________________________________________________

HYDROXYGLUTARIC ACIDURIA _______________________________________________________________ 4907 NEXTGEN PANEL $1,390 _______________________________________________________________ D2HGDH IDH2 L2HGDH SLC25A1 _______________________________________________________________

HYPER IGD SYNDROME _______________________________________________________________ 1767 MVK $780 _______________________________________________________________

HYPER IGE SYNDROME _______________________________________________________________ 1969 NEXTGEN PANEL $1,540 _______________________________________________________________ DOCK8 SPINK5 STAT3 TYK2 _______________________________________________________________

HYPER IGM SYNDROME _______________________________________________________________ 1761 AICDA $580 1653 CD4OLG $650 _______________________________________________________________

18

TEST NO.

TEST NAME

PRICE

HYPERAMMONEMIA _______________________________________________________________ 4989 CPS1 $990 551 OTC $840 555 NAGS $650 _______________________________________________________________

HYPERCALCIURIA _______________________________________________________________ 5443 ADCY10 $990 _______________________________________________________________

HYPERCHOLESTEROLEMIA, FAMILIAL _______________________________________________________________ 3271 NEXTGEN PANEL $1,390 _______________________________________________________________ APOB LDLR LDLRAP1 PCSK9 _______________________________________________________________

HYPERCALCEMIC AND HYPOCALCEMIC DISORDERS _______________________________________________________________ 4337 NEXTGEN PANEL $1,390 _______________________________________________________________ AP2S1 CASR GNA11 _______________________________________________________________

HYPOCALCIURIC HYPERCALCEMIA _______________________________________________________________ 1509 AP2S1 $650 _______________________________________________________________

HYPOMAGNESEMIA _______________________________________________________________ 2728 FXYD2 $440 _______________________________________________________________

HYPOPHOSPHATEMIC NEPHROLITHIASIS/ OSTEOPOROSIS-2 (NPHLOP2) _______________________________________________________________ 2552 SLC9A3R1 $650 _______________________________________________________________

HYPERAMMONEMIA _______________________________________________________________ 3473 NEXTGEN PANEL $1,690 _______________________________________________________________ ACADM ACADS ACADVL ARG1 ASL ASS1 CPS1 CPT1A CPT2 ETFA ETFB ETFDH GLUD1 HADHA HADHB HCFC1 HLCS HMGCS2 IVD MCCC1 MCCC2 MMAA MMAB MMACHC MMADHC MUT NAGS OAT OTC PCCA PCCB SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC7A7 TMEM70 _______________________________________________________________

HYPERGLYCEMIA AND HYPOGLYCEMIA _______________________________________________________________ 1220 GCK $750 _______________________________________________________________

HYPERMETHIONINEMIA _______________________________________________________________ 3407 NEXTGEN PANEL $1,940 _______________________________________________________________ AHCY GNMT MAT1A _______________________________________________________________

HYPERPARATHYROIDISM _______________________________________________________________ 4575 CDC73 $990 _______________________________________________________________

HYPERPHENYLALANINEMIA _______________________________________________________________ 547 DNAJC12 $650 _______________________________________________________________ 3403 NEXGEN PANEL $1,440 _______________________________________________________________ GCH1 PAH PCBD1 PTS QDPR _______________________________________________________________

HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY _______________________________________________________________ 2933 PIGO $910 _______________________________________________________________



TEST NAME

PRICE

HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS (HFTC) AND HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME (HHS) _______________________________________________________________ 3364 GALNT3 $750 _______________________________________________________________

HYPERTENSION AND BRACHYDACTYLY SYNDROME _______________________________________________________________ 3745 PDE3A $1,190 _______________________________________________________________

HYPERTROPHIC CARDIOMYOPATHY _______________________________________________________________ 1250 SLC25A4 $580 _______________________________________________________________ 1313 NEXTGEN PANEL $1,770 _______________________________________________________________ ACTC1 ACTN2 ANKRD1 BAG3 CAV3 CSRP3 FHL1 GAA GLA JPH2 KRAS LAMP2 LDB3 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYO6 MYOZ2 MYPN NEXN PLN PRKAG2 PRKAR1A PTPN11 RAF1 RYR2 SCO2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL _______________________________________________________________

HYPOBETALIPOPROTEINEMIA _______________________________________________________________ 4629 APOB $990 _______________________________________________________________

HYPOCHONDROGENESIS _______________________________________________________________ 3061 COL2A1 $990 _______________________________________________________________

HYPOCHONDROPLASIA _______________________________________________________________ 429 FGFR3 $970 428 FGFR3 Targeted $560 _______________________________________________________________

HYPOGONADOTROPIC HYPOGONADISM / KALLMANN SYNDROME _______________________________________________________________ 1756 PROK2 $580 1755 PROKR2 $490 _______________________________________________________________

HYPOPARATHYROIDISM _______________________________________________________________ 2653 NEXTGEN PANEL $1,690 _______________________________________________________________ AIRE AP2S1 CASR FAM111A GATA3 GCM2 GNA11 GNAS HADHA HADHB PTH PTH1R SOX3 STX16 TBCE _______________________________________________________________

HYPOPHOSPHATASIA (HPP) AND INHERITED HYPOPHOSPHATEMIC RICKETS _______________________________________________________________ 3251 NEXTGEN PANEL $1,770 _______________________________________________________________ ALPL CYP27B1 DMP1 ENPP1 FGF23 PHEX SLC34A3 _______________________________________________________________

HYPOMAGNESEMIA _______________________________________________________________ 3025 NEXTGEN PANEL $1,590 _______________________________________________________________ BSND CASR CLDN16 CLDN19 CNNM2 EGF EGFR FAM111A FXY02 HNF1B KCNA1 KCNJ10 PCBD1 SARS2 SLC12A3 TRPM6 _______________________________________________________________

HYPOMELINATION AND CONGENITAL CATARACT _______________________________________________________________ 1669 FAM126A $780 _______________________________________________________________

TEST NO.

TEST NAME

PRICE

HYPOPARATHYROIDISM _______________________________________________________________ 2653 NEXTGEN PANEL $1,690 _______________________________________________________________ AIRE AP2S1 CASR FAM111A GATA3 GCM2 GNA11 GNAS HADHA HADHB PTH PTH1R SOX3 STX16 TBCE _______________________________________________________________

HYPOPHOSPHATASIA _______________________________________________________________ 851 ALPL $870 _______________________________________________________________

HYPOPHOSPHATEMIA, X-LINKED _______________________________________________________________ 1667 PHEX $1,190 _______________________________________________________________

HYPOTHYROIDISM AND HYPERTHYROIDISM _______________________________________________________________ 4681 TSHR $990 _______________________________________________________________

ICHTHYOSIS _______________________________________________________________ 4929 NEXTGEN PANEL $1,990 _______________________________________________________________ ABCA12 ABHD5 ALOX12B ALOXE3 AP1S1 CERS3 CLDN1 CYP4F22 KRT1 KRT10 KRT2 KRT9 LIPN NIPAL4 PNPLA1 POMP SLC27A4 ST14 TGM1 _______________________________________________________________

ICHTHYOSIS BULLOSA _______________________________________________________________ 2554 KRT2 $780 _______________________________________________________________

IDIOPATHIC BASAL GANGLIA CALCIFICATION _______________________________________________________________ 5017 NEXTGEN PANEL $649 _______________________________________________________________ PDGFB PDGFRB SLC20A2 XPR1 _______________________________________________________________

IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM _______________________________________________________________ 1750 GNRH1 $440 1748 GNRHR $490 1753 KISS1 $440 1754 KISS1R $610 1757 TAC3 $540 1747 TACR3 $650 _______________________________________________________________

IL12RB1 DEFICIENCY _______________________________________________________________ 1768 IL12RB1 $1,220 _______________________________________________________________

IMMOTILE CILIA SYNDROME / PRIMARY CILIARY DYSKINESIA _______________________________________________________________ 1059 NEXTGEN PANEL $1,990 _______________________________________________________________ AK7 ARMC4 C21orf59 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CFTR1 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 INVS LRRC6 MCIDAS NME8 OFD1 PIH1D3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 TTC25 ZMYND10 _______________________________________________________________

INCLUSION BODY MYOPATHY _______________________________________________________________ 367 GNE $810 361 MYH2 $1,650 4807 VCP $990 _______________________________________________________________

INCREASED PAIN SENSITIVITY _______________________________________________________________ 1803 COMT $610 _______________________________________________________________

PUT US TO THE TEST

19


TEST NAME

PRICE

INFANTILE CEREBELLAR-RETINAL DEGENERATION _______________________________________________________________ 4083 ACO2 $990 _______________________________________________________________

INFANTILE MYOFIBROMATOSIS _______________________________________________________________ 4971 NEXTGEN PANEL $1,390 _______________________________________________________________ NOTCH3 PDGFRB _______________________________________________________________

INFANTILE MYOFIBROMATOSIS AND IDIOPATHIC BASAL GANGLIA CALCIFICATION _______________________________________________________________ 4399 PDGFRB $990 _______________________________________________________________

INFANTILE SIALIC ACID STORAGE DISEASE _______________________________________________________________ 1228 SLC17A5 $840 _______________________________________________________________

INFERTILITY SEQUENCING PANEL - FEMALE _______________________________________________________________ 4513 NEXTGEN PANEL $1,990 _______________________________________________________________ AIRE ANOS1 AR ARL6 ARX ATRX BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMP15 CBX2 CHD7 CLPP CYP11A1 CYP17A1 CYP19A1 DHH DMRT1 DMRT2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 FGF8 FGFR1 FGFR2 FIGLA FOXL2 FSHB FSHR GALT GNRH1 GNRHR HESX1 HFE HFM1 HS6ST1 HSD17B3 KISS1 KISS1R LEP LEPR LHCGR LHX3 LHX4 MAMLD1 MAP3K1 MCM8 MKKS NOBOX NR0B1 NR5A1 NSMF PCSK1 POR PRLR PROK2 PROKR2 PROP1 RSPO1 SEMA3A SOHLH1 SOX2 SOX3 SOX9 SRD5A2 SRY STAR TAC3 TACR3 TRIM32 TTC8 WDR11 WNT4 WT1 WWOX ZP1 _______________________________________________________________

INFERTILITY SEQUENCING PANEL - MALE _______________________________________________________________ 4511 NEXTGEN PANEL $2,190 _______________________________________________________________ AIRE AMH AMHR2 ANOS1 AR ARL6 ARX ATRX AURKC BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CATSPER1 CBX2 CFTR CHD7 CYP11A1 CYP17A1 CYP19A1 DHH DMRT1 DMRT2 DNAH1 FGF8 FGFR1 FGFR2 FOXL2 FSHB GALNTL5 GATA4 GNRH1 GNRHR HESX1 HFE HS6ST1 HSD17B3 KISS1 KISS1R LEP LEPR LHCGR LHX3 LHX4 MAMLD1 MAP3K1 MKKS NPAS2 NR0B1 NR5A1 NSMF PCSK1 PICK1 POR PROK2 PROKR2 PROP1 RSPO1 SEMA3A SLC26A8 SOX2 SOX3 SOX9 SPATA16 SRD5A2 SRY STAR TAC3 TACR3 TEX11 TRIM32 TTC8 WDR11 WNT4 WT1 WWOX _______________________________________________________________

INHERITED RETINAL DYSTROPHIES _______________________________________________________________ 4379 NEXTGEN PANEL $2,390 _______________________________________________________________ ABCA4 ABCD1 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADGRV1 ADIPOR1 AGBL5 AHI1 AIPL1 ALMS1 AMACR ARL13B ARL2BP ARL3 ARL6 ATF6 ATXN7 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 C21orf2 C2orf71 C5orf42 C8orf37 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CDH23 CDH3 CDHR1 CEP164 CEP250 CEP290 CEP41 CEP83 CERKL CFAP57 CHM CIB2 CISD2 CLN3 CLN5 CLN6 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4

20

TEST NO.

TEST NAME

PRICE

COL11A1 COL2A1 COL9A1 CRB1 CRX CSPP1 CTNNA1 CTSD CYP4V2 DHDDS DHX38 DNAJC5 DRAM2 DTHD1 EFEMP1 ELOVL4 EMC1 EYS FAM161A FLVCR1 FSCN2 FZD4 GDF6 GJB2 GJB6 GNAT1 GNAT2 GPR179 GRM6 GRN GUCA1A GUCA1B GUCY2D HARS HCN1 HGSNAT HK1 HMCN1 HMX1 IDH3B IFT140 IFT172 IFT27 IFT81 IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 ITM2B JAG1 KCNJ13 KCNV2 KIAA1549 KIF11 KIF7 KIZ KLHL7 LAMA1 LCA5 RAT LRIT3 LRP5 LZTFL1 MAK MERTK MFN2 MFRP MFSD8 MIR204 MKKS MKS1 MMACHC MTTP MVK MYO7A NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NXNL1 NYX OAT OFD1 OPA1 OPA3 OR2W3 OTX2 PANK2 PAX2 PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGK1 PHYH PITPNM3 PLA2G5 PLK4 PNPLA6 POC1B PPT1 PRCD PRKCG PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RAB28 RAX2 RBP3 RBP4 RD3 RDH11 RDH12 RDH5 RGR RGS9 RGS9BP RHO RIMS1 RLBP1 ROM1 RP1 RP1L1 RP2 RPE65 RPGR RPGRIP1 RPGRIP1L RS1 RTN4IP1 SAG SDCCAG8 SEMA4A SLC24A1 SLC25A46 SLC4A7 SLC7A14 SNRNP200 SPATA7 SPP2 TCTN1 TCTN2 TCTN3 TEAD1 TIMM8A TIMP3 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TPP1 TREX1 TRIM32 TRNT1 TRPM1 TSPAN12 TTC21B TTC8 TTLL5 TTPA TUB TUBGCP4 TUBGCP6 TULP1 UNC119 USH1C USH1G USH2A VCAN VPS13B VSX2 WDPCP WDR19 WDR35 WFS1 WHRN ZNF408 ZNF423 ZNF513 _______________________________________________________________

INHERITED SYSTEMIC HYALINE _______________________________________________________________ 608 ANTXR2 $1,060 _______________________________________________________________

INTELLECTUAL DISABILITIES _______________________________________________________________ 564 ADSL $840 284 CCBE1 $750 3259 DYNC1H1 $990 4849 NRXN1 $990 4249 SPTAN1 $990 1517 TRAPPC9 $1,220 1516 TUSC3 $750 4325 VPS13B $990 _______________________________________________________________ 2675 NEXTGEN PANEL X-LINKED $2,940 _______________________________________________________________ ABCD1 ACSL4 AFF2 AIFM1 ALG13 AP1S2 ARHGEF9 ARX ATP6AP2 ATP7A ATRX BCOR BRWD3 CASK CCDC22 CDKL5 CLCN4 CLIC2 CNKSR2 CUL4B DCX DKC1 DLG3 FGD1 FMR1 FTSJ1 GDI1 GPC3 GRIA3 HCFC1 HDAC8 HPRT1 HSD17B10 HUWE1 IDS IL1RAPL1 IQSEC2 KDM5C L1CAM LAMP2 MAOA MBTPS2 MECP2 MED12 MID1 NAA10 NEXMIF NDP NHS NLGN4X NSDHL OCRL OFD1 OPHN1 OTC PAK3 PCDH19 PDHA1 PGK1 PHF6 PHF8 PLP1 PQBP1 PRPS1 PTCHD1 RAB39B RBM10 RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A SMS SYN1 SYP UBE2A UPF3B USP9X WDR45 ZC4H2 ZDHHC9 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

INTERSTITIAL LUNG DISEASE _______________________________________________________________

KALLMANN SYNDROME _______________________________________________________________

5211 NEXTGEN PANEL $1,770 _______________________________________________________________ ABCA3 CFTR CSF2RB DKC1 FLCN HPS1 HPS4 ITGA3 NF1 NKX2-1 PARN RTEL1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2 TSC1 TSC2 _______________________________________________________________

3415 NEXTGEN PANEL $1,440 _______________________________________________________________ ANOS1 CHD7 FGFR1 _______________________________________________________________

IPEX SYNDROME _______________________________________________________________

See Heterotaxy _______________________________________________________________

KARTAGENER’S SYNDROME OR HETEROTAXY WITH CHRONIC RESPIRATORY INFECTIONS _______________________________________________________________

1838 FOXP3 $870 _______________________________________________________________

KARYOMEGALIC TUBULOINTERSTITIAL NEPHRITIS _______________________________________________________________

IRON-REFRACTORY IRON DEFICIENCY ANEMIA _______________________________________________________________

1631 FAN1 $1,100 _______________________________________________________________

1765 TMPRSS6 $1,280 _______________________________________________________________

KENNY-CAFFEY SYNDROME _______________________________________________________________

ISOLATED FOVEAL HYPOPLASIA TYPE 2 _______________________________________________________________

4339 NEXTGEN PANEL $1,390 _______________________________________________________________ FAM11A TBCE _______________________________________________________________

2004 SLC38A8 $840 _______________________________________________________________

ISOLATED NONSYNDROMIC CONGENITAL HEART DISEASE _______________________________________________________________

KERATOCONUS _______________________________________________________________ 1676 VSX1 $650 _______________________________________________________________

943 GATA4 $650 944 NKX2-5 $490 946 ZFPM2 $930 _______________________________________________________________

KIF1A-RELATED DISORDERS _______________________________________________________________

ISOLATED POLYCYSTIC LIVER DISEASE _______________________________________________________________

KINDLER SYNDROME _______________________________________________________________

5419 KIF1A $990 _______________________________________________________________

1385 NEXTGEN PANEL $1,540 _______________________________________________________________ LRP5 PRKCSH SEC63 _______________________________________________________________

969 FERMT1 $1,020 _______________________________________________________________

ISOVALERIC ACIDEMIA _______________________________________________________________

1518 EHMT1 $1,340 _______________________________________________________________

535 DPM1 $650 250 IVD $840 _______________________________________________________________

JERVELL AND LANGE-NIELSEN SYNDROME _______________________________________________________________ 1043 KCNE1 $440 4877 KCNQ1 $990 _______________________________________________________________

JOHANSON-BLIZZARD SYNDROME _______________________________________________________________ 3033 UBR1 $990 _______________________________________________________________

JOUBERT SYNDROME _______________________________________________________________ 1057 NEXTGEN PANEL $1,890 _______________________________________________________________ AHI1 ARL13B B9D1 B9D2 C5orf42 CC2D2A CEP290 CEP41 CSPP1 INPP5E KIF14 KIF7 MKS1 NPHP1 NPHP3 OFD1 PDE6D RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM67 TMEM138 TMEM216 TMEM231 TMEM237 TTC21B ZNF423 _______________________________________________________________

JUVENILE HEREDITARY HEMOCHROMATOSIS _______________________________________________________________ 2128 HAMP $440 2129 HFE2 $650 _______________________________________________________________

JUVENILE POLYPOSIS SYNDROME _______________________________________________________________ 708 BMPR1A $690 709 SMAD4 $770 _______________________________________________________________

KABUKI SYNDROME _______________________________________________________________ 1911 NEXTGEN PANEL $1,740 _______________________________________________________________ KDM6A KMT2D RAP1A RAP1B _______________________________________________________________

KLEEFSTRA SYNDROME _______________________________________________________________ KLICK SYNDROME _______________________________________________________________ 2562 POMP $680 _______________________________________________________________

KLIPPEL-FEIL SYNDROME _______________________________________________________________ 424 GDF6 $490 838 MEOX1 $610 _______________________________________________________________

KNIEST DYSPLASIA _______________________________________________________________ 3061 COL2A1 $990 _______________________________________________________________

KNOBLOCH SYNDROME _______________________________________________________________ 641 COL18A1 $1,750 _______________________________________________________________

KOHLSHUTTER-TONZ SYNDROME _______________________________________________________________ 1605 ROGD1 $840 _______________________________________________________________

KRABBE DISEASE _______________________________________________________________ 631 GALC $910 632 GALC 502T/del $250 _______________________________________________________________

L1 SYNDROME _______________________________________________________________ 304 L1CAM $1,220 _______________________________________________________________

L-2-HYDROXYGLUTARIC ACIDURIA TYPE I _______________________________________________________________ 4774 L2HGDH $940 _______________________________________________________________

LAFORA DISEASE _______________________________________________________________ 1425 EPM2A $580 635 NHLRC1 $540 _______________________________________________________________

PUT US TO THE TEST

21


TEST NAME

PRICE

LAMELLAR ICHTHYOSIS _______________________________________________________________ 1163 CYP4F22 $940 _______________________________________________________________

LANGER MESOMELIC DYSPLASIA _______________________________________________________________ 626 SHOX $520 _______________________________________________________________

LARON SYNDROME/PITUITARY DWARFISM II _______________________________________________________________ 627 GHR $840 _______________________________________________________________

LARSEN SYNDROME _______________________________________________________________

TEST NO.

TEST NAME

PRICE

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER _______________________________________________________________ 3279 NEXTGEN PANEL $1,440 _______________________________________________________________ EIF2B1 EIF2B3 EIF2B3 EIF2B4 EIF2B5 _______________________________________________________________

LHCGR-RELATED DISORDERS _______________________________________________________________ 1514 LHCGR $990 _______________________________________________________________

LIDDLE SYNDROME _______________________________________________________________

4643 FLNB $990 _______________________________________________________________

1273 SCNN1B $870 1274 SCNN1G $780 _______________________________________________________________

LEBER CONGENITAL AMAUROSIS _______________________________________________________________

LI-FRAUMENI SYNDROME _______________________________________________________________

4313 NEXTGEN PANEL $1,690 _______________________________________________________________ AIPL1 CABP4 CEP290 CNGA3 CNGB3 CRB1 CRX DTHD1 GNAT2 GUCY2D IMPDH1 INPP5E IQCB1 KCNJ13 LCA5 LRAT MERTK NMNAT1 OTX2 PDE6H PRPH2 RD3 RDH12 RPE65 RPGRIP1 SNRNP200 SPATA7 TULP1 _______________________________________________________________

LIG4 SYNDROME _______________________________________________________________

LEFT VENTRICULAR NON-COMPACTION _______________________________________________________________ 1333 NEXTGEN PANEL $1,540 _______________________________________________________________ ACTC1 DTNA LDB3 LMNA MYBPC3 MYH7 TAZ TNNT2 VCL _______________________________________________________________

LEGIUS SYNDROME _______________________________________________________________ 116 SPRED1 $650 _______________________________________________________________

LEIGH SYNDROME _______________________________________________________________ 2957 NDUFAF6 $810 4195 NDUFS1 $990 2953 SURF1 $580 3315 TACO1 $650 _______________________________________________________________

LERI-WEILL DYSCHONDROSTEOSIS _______________________________________________________________ 626 SHOX $520 _______________________________________________________________

LEIGH SYNDROME _______________________________________________________________ 3310 NDUFAF2 $580 3309 NDUFAF12 $610 _______________________________________________________________

LENZ MICROPHTHALMIA SYNDROME, X-LINKED/ LETHAL OGDEN SYNDROME _______________________________________________________________ 2006 NAA10 $680 _______________________________________________________________

LESCH-NYHAN SYNDROME _______________________________________________________________ 1824 HPRT1 $780 _______________________________________________________________

714 CHEK2 $940 713 TP53 $770 _______________________________________________________________

1711 LIG4 $680 _______________________________________________________________

LIMB GIRDLE MUSCULAR DYSTROPHY _______________________________________________________________ 385 TTN (Exons 307-312) $1,220 _______________________________________________________________ 1345 NEXTGEN PANEL $1,990 _______________________________________________________________ ANO5 CAPN3 CAV3 DES DNAJB6 DYSF FKRP FKTN GAA GMPPB HNRNPDL ISPD LIMS2 LMNA MYOT PLEC PNPLA2 POMGNT1 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG SMCHD1 TCAP TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TTN VCP _______________________________________________________________ 1349 NEXTGEN PANEL, AUTOSOMAL DOMINANT $1,590 _______________________________________________________________ CAV3 DES DNAJB6 HNRNPDL LMNA MYOT SMCHD1 TNPO3 TTN VCP _______________________________________________________________ 1347 NEXTGEN PANEL, AUTOSOMAL RECESSIVE $1,890 _______________________________________________________________ ANO5 CAPN3 DES DYSF FKRP FKTN GAA GMPPB ISPD LIMS2 PNPLA2 POMGNT1 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG TCAP TOR1AIP1 TRAPPC11 TRIM32 TTN _______________________________________________________________

LIMB-MAMMARY SYNDROME _______________________________________________________________ 834 TP63 $870 _______________________________________________________________

LIPODYSTROPHY AND HERITABLE PULMONARY ARTERIAL HYPERTENSION _______________________________________________________________ 2203 CAV1 $580 _______________________________________________________________

LISSENCEPHALY _______________________________________________________________

4669 GLE1 $990 _______________________________________________________________

502 ARX $650 503 DCX $610 507 PAFAH1B1 $710 5073 RELN $990 504 TUBA1A $490 505 YWHAE $580 _______________________________________________________________

LEUKOCYTE ADHESION DEFICIENCY _______________________________________________________________

LOEYS-DIETZ SYNDROME _______________________________________________________________

LETHAL CONGENITAL CONTRACTURE SYNDROME AND LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE _______________________________________________________________

516 SLC35C1 $490 _______________________________________________________________

22

4289 NEXTGEN PANEL $1,490 _______________________________________________________________ SMAD3 TGFB2 TGFBR1 TGFBR2 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

LONG QT SYNDROME _______________________________________________________________

MANDIBULOACRAL DYSPLASIA _______________________________________________________________

2601 NEXTGEN PANEL $1,740 _______________________________________________________________ AKAP9 ANK2 CACNA1C CALM1 CALM2 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN4B SCN5A SNTA1 _______________________________________________________________

347 LMNA $610 _______________________________________________________________

LOWE SYNDROME AND DENT DISEASE _______________________________________________________________ 4851 OCRL $990 _______________________________________________________________

LUJAN SYNDROME _______________________________________________________________ 398 MED12 $1,850 _______________________________________________________________

LUNG CANCER _______________________________________________________________ 4391 EGFR $990 _______________________________________________________________

LYMPHEDEMA _______________________________________________________________ 1925 NEXTGEN PANEL $1,940 _______________________________________________________________ CCBE1 FLT4 FOXC2 GATA2 GJC2 KIF11 SOX18 _______________________________________________________________

MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE _______________________________________________________________ 1953 NEXTGEN PANEL $1,440 _______________________________________________________________ DHODH EFTUD2 POLR1C POLR1D SF3B4 TCOF1 _______________________________________________________________

MANDIBULO ACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY _______________________________________________________________ 400 ZMPSTE24 $710 _______________________________________________________________

MAPLE SYRUP URINE DISEASE _______________________________________________________________ 529 DLD $840 _______________________________________________________________ 3281 NEXTGEN PANEL $1,440 BCKDHA BCKDHB DBT _______________________________________________________________

MARFAN SYNDROME AND RELATED AORTOPATHIES _______________________________________________________________

280 FOXC2 $560 _______________________________________________________________

1212 NEXTGEN PANEL $1,490 _______________________________________________________________ ACTA2 CBS COL3A1 COL5A1 COL5A2 FBN1 FBN2 FLNA MAT2A MED12 MFAP5 MYH11 MYLK PLOD1 PRKG1 SKI SLC2A10 SMAD3 SMS TGFB2 TGFBR1 TGFBR2 _______________________________________________________________

LYNCH SYNDROME _______________________________________________________________

MARINESCO-SJOGREN SYNDROME _______________________________________________________________

LYMPHEDEMA DISTICHIASIS SYNDROME _______________________________________________________________

See Hereditary Non-Polyposis Colorectal Cancer / Lynch Syndrome _______________________________________________________________

MACROCEPHALY, ALOPECIA, CUTIS LAXA AND SCOLIOSIS SYNDROME _______________________________________________________________ 1064 RIN2 $990 _______________________________________________________________

MACROCEPHLAY/AUTISM SYNDROME _______________________________________________________________ 707 PTEN $810 _______________________________________________________________

MACULAR CORNEAL DYSTROPHY _______________________________________________________________ 1822 CHST6 $370 _______________________________________________________________

1674 SIL1 $750 _______________________________________________________________

MARSHALL SYNDROME _______________________________________________________________ 3155 COL11A1 $990

MATURITY ONSET DIABETES OF THE YOUNG _______________________________________________________________ 1903 NEXTGEN PANEL $1,590 _______________________________________________________________ ABCC8 BLK GCK HNF1A HNF1B HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 _______________________________________________________________

MAY-HEGGLIN ANOMALY _______________________________________________________________

4181 LPIN2 $990 _______________________________________________________________


MALATTIA LEVENTINISE _______________________________________________________________

MCARDLE DISEASE _______________________________________________________________

MAJEED SYNDROME _______________________________________________________________

2018 EFEMP1 $810 _______________________________________________________________

226 PYGM $890 _______________________________________________________________

MALE INFERTILITY _______________________________________________________________

MCLEOD SYNDROME _______________________________________________________________

731 AURKC $650 1743 CATSPER1 $1,060 _______________________________________________________________

1716 XK $610 _______________________________________________________________

MALIGNANT HYPERTHERMIA _______________________________________________________________

1003 WT1 $840 _______________________________________________________________

1383 NEXTGEN PANEL $1,590 _______________________________________________________________ CACNA1S RYR1 STAC3 _______________________________________________________________

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY AND AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY _______________________________________________________________ 3111 KCNT1 $990 _______________________________________________________________

MALONIC AND METHYLMALONIC ACIDURIA COMBINED _______________________________________________________________

MEACHAM SYNDROME _______________________________________________________________ MECKEL-GRUBER SYNDROME _______________________________________________________________ 1057 NEXTGEN PANEL $1,890 _______________________________________________________________ AHI1 ARL13B B9D1 B9D2 C5orf42 CC2D2A CEP290 CEP41 CSPP1 INPP5E KIF14 KIF7 MKS1 NPHP1 NPHP3 OFD1 PDE6D RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TTC21B ZNF423 _______________________________________________________________

314 ACSF3 $810 _______________________________________________________________

PUT US TO THE TEST

23


TEST NAME

PRICE

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY _______________________________________________________________ 180 ACADM $750 _______________________________________________________________

MEDULLARY CYSTIC KIDNEY DISEASE TYPE 2 _______________________________________________________________

TEST NO.

TEST NAME

PRICE

METACHONDROMATOSIS _______________________________________________________________ 373 PTPN11 $940 _______________________________________________________________

METACHROMATIC LEUKODYSTROPHY _______________________________________________________________

1681 UMOD $910 _______________________________________________________________

3285 NEXTGEN PANEL $1,390 ARSA PSAP _______________________________________________________________

MEGALOCORNEA (X-LINKED) _______________________________________________________________

METAPHYSEAL DYSPLASIA _______________________________________________________________

1679 CHRDL1 $810 _______________________________________________________________

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS _______________________________________________________________

802 COL10A1 $610 784 RMRP $2,50 _______________________________________________________________

METATROPIC DYSPLASIA _______________________________________________________________

3423 NEXTGEN PANEL $1,340 _______________________________________________________________ HEPACAM MLC1 _______________________________________________________________

833 TRPV4 $890 _______________________________________________________________

MEIER-GORLIN SYNDROME _______________________________________________________________

1239 MAT1A $710 _______________________________________________________________

3283 NEXTGEN PANEL $1,440 _______________________________________________________________ CDC6 CDT1 ORC1 ORC4 ORC6 _______________________________________________________________

MELANOMA PREDISPOSITION _______________________________________________________________ 1176 BAP1 $970 1169 CDK4 $680 1168 CDKN2A $540 _______________________________________________________________

MENKES DISEASE _______________________________________________________________ 4883 ATP7A $1,090 _______________________________________________________________

MEROSIN DEFICIENT CONGENITAL MUSCULAR DYSTROPH _______________________________________________________________ 3051 LAMA2 $990 245 LAMA2 Mexican 55 Mutation $2,50 _______________________________________________________________

MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION _______________________________________________________________ 2878 BHLHA9 $490 _______________________________________________________________

METABOLIC HYPOGLYCEMIA _______________________________________________________________ 4307 NEXTGEN PANEL $1,690 _______________________________________________________________ ACAT1 ACSF3 AGL ALDOB FBP1 G6PC GALT GYS2 HMGCL MLYCD OXCT1 PC PCK1 PCK2 PGM1 PHKA2 PHKB PHKG2 PYGL SLC16A1 SLC2A2 SLC37A4 _______________________________________________________________

METABOLIC MYOPATHIES, RHABDOMYOLYSIS AND EXERCISE INTOLERANCE _______________________________________________________________ 4979 NEXTGEN PANEL $1,790 _______________________________________________________________ ABHD5 ACAD9 ACADM ACADS ACADVL AGL ALDOA AMACR AMPD1 ANO5 COQ2 COQ8A COQ9 CPT1A CPT2 DYSF ENO3 ETFA ETFB ETFDH FDX1L FKRP FKTN FLAD1 GAA GBE1 GYG1 GYS1 HADH HADHA HADHB ISCU LAMP2 LDHA LPIN1 OPA1 OPA3 PDSS1 PDSS2 PFKM PGAM2 PGK1 PGM1 PHKA1 PNPLA2 POLG POLG2 PYGM RBCK1 RRM2B RYR1 SIL1 SLC22A5 SLC25A20 SUCLA2 TAZ TK2 TWNK TYMP _______________________________________________________________

24

METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY _______________________________________________________________ METHYLMALONIC ACIDEMIA _______________________________________________________________ 3401 NEXTGEN PANEL $1,440 _______________________________________________________________ ACSF3 ALDH6A1 CD320 MCEE MLYCD MMAA MMAB MMADHC MUT SUCLA2 SUCLG1 _______________________________________________________________

METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY _______________________________________________________________ 5091 ALDH6A1 $990 _______________________________________________________________

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA _______________________________________________________________ 3287 NEXTGEN PANEL $1,440 _______________________________________________________________ ABCD4 CD320 HCFC1 LMBRD1 MMACHC MMADHC TCN2 _______________________________________________________________

METHLYMALONYL-COA EPIMERASE DEFICIENCY _______________________________________________________________ 2192 MCEE $540 _______________________________________________________________

MEVALONATE ACIDURIA _______________________________________________________________ 1767 MVK $780 _______________________________________________________________

MFRP-RELATED OCULOPATHY _______________________________________________________________ 1738 MFRP $810 _______________________________________________________________

MICROCEPHALY, SEIZURES AND DEVELOPMENTAL DELAY _______________________________________________________________ 2082 PNKP $970 _______________________________________________________________

MICROPHTHALMIA _______________________________________________________________ 2637 NEXTGEN PANEL $1,490 _______________________________________________________________ ALDH1A3 BCOR BMP4 BMP7 CRYAB4 FOXE3 GDF6 HCCS MITF OTX2 RAX SIX6 SMOC1 SOX2 STRA6 TENM3 VSX3 _______________________________________________________________

MIGRAINE, FAMILIAL HEMIPLEGIC _______________________________________________________________ 4631 ATP1A2 $990 1778 CACNA1A $1,290 _______________________________________________________________



TEST NAME

PRICE

MILLER SYNDROME _______________________________________________________________ 1019 DHODH $750 _______________________________________________________________ 1953 NEXTGEN PANEL $1,440 DHODH EFTUD2 POLR1C POLR1D SF3B4 TCOF1 _______________________________________________________________

MILROY DISEASE _______________________________________________________________ 3081 FLT4 $990 _______________________________________________________________

MITOCHONDRIAL COMPLEX I DEFICIENCY _______________________________________________________________

TEST NO.

TEST NAME

PRICE

MITOCHONDRIAL PHOSPHOENOLPYRUVATECARBOXYLASE 2 DEFICIENCY _______________________________________________________________ 1433 PCK2 $870 _______________________________________________________________

MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY _______________________________________________________________ 2955 MPC1 $610 _______________________________________________________________

MIYOSHI MYOPATHY _______________________________________________________________ 3123 DYSF $990 _______________________________________________________________

3455 NEXTGEN PANEL $1,980 _______________________________________________________________ ACAD9 FOXRED1 MTFMT NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL POLG _______________________________________________________________

MOHR TRANENBJAERG/JENSEN SYNDROME _______________________________________________________________

MITOCHONDRIAL COMPLEX II DEFICIENCY _______________________________________________________________

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME _______________________________________________________________

3457 NEXTGEN PANEL $2,520 SDHA SDHAF1 SDHB SDHD _______________________________________________________________

MITOCHONDRIAL COMPLEX III DEFICIENCY _______________________________________________________________ 3459 NEXTGEN PANEL $1,650 _______________________________________________________________ BCS1L CYC1 LYRM7 TTC19 UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ _______________________________________________________________

MITOCHONDRIAL COMPLEX IV DEFICIENCY _______________________________________________________________ 3461 NEXTGEN PANEL $1,710 _______________________________________________________________ APOPT1 COA3 COA5 COA6 COX14 COX15 COX20 COX6B1 FASTKD2 LRPPRC PET100 SCO1 SCO2 SURF1 TACO1 _______________________________________________________________

MITOCHONDRIAL COMPLEX V DEFICIENCY _______________________________________________________________ 3463 NEXTGEN PANEL $2,100 _______________________________________________________________ ATP5A1 ATP5E ATPAF2 TMEM70 _______________________________________________________________

MITOCHONDRIAL DNA DEPLETION SYNDROME _______________________________________________________________ 1243 DGUOK $650 1254 MFN2 $910 1247 MPV17 $540 1246 RRM2B $780 1251 SUCLA2 $810 1249 SUCLG1 $750 1245 TK2 $710 _______________________________________________________________

MITOCHONDRIAL GENOME MAINTENANCE/INTEGRITY _______________________________________________________________ 1399 NEXTGEN PANEL $1,540 AGK APTX DGUOK DNA2 FBXL4 MFN2 MBME1 MPV17 OPA1 OPA3 POLG POLG2 RRM2B SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TK2 TWNK TYMP _______________________________________________________________

1467 TIMM8A $490 _______________________________________________________________

MOLYBDENUM COFACTOR DEFICIENCY _______________________________________________________________ 1873 GPHN $1,470 _______________________________________________________________

3215 BUB1B $990 _______________________________________________________________

MOWAT-WILSON SYNDROME _______________________________________________________________ 1567 ZEB2 $990 _______________________________________________________________

MUCKLE-WELLS SYNDROME _______________________________________________________________ 4685 NLRP3 $990 _______________________________________________________________

MUCOLIPIDOSIS _______________________________________________________________ 4671 GNPTAB $990 317 GNPTG $540 519 MCOLN1 $940 _______________________________________________________________

MUCOPOLYSACCHARIDOSIS _______________________________________________________________ 454 ARSB $680 455 GALNS $840 477 GLB1 $870 457 GUSB $780 485 HYAL1 $610 453 IDS $710 452 IDUA $870 _______________________________________________________________ 3419 NEXTGEN PANEL TYPE III $1,540 _______________________________________________________________ GNS HGSNAT NAGLU SGSH _______________________________________________________________

MULTIPLE ENDOCRINE NEOPLASIA _______________________________________________________________ 716 CDKN1B $440 715 MEN1 $750 794 RET Exon 15-16 $370 792 RET Tier 1 $590 793 RET Tier 2 $960 _______________________________________________________________

MULTIPLE EPIPHYSEAL DYSPLASIA _______________________________________________________________

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY _______________________________________________________________

1317 NEXTGEN PANEL $1,890 _______________________________________________________________ COL2A1 COL9A1 COL9A2 COL9A3 COMP MATN3 SLC26A2 _______________________________________________________________

1242 TYMP $710 _______________________________________________________________

MULTIPLE OSTEOCHONDROMAS _______________________________________________________________

MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY

807 EXT1 $840 808 EXT2 $870 _______________________________________________________________

1252 SLC25A3 $710 _______________________________________________________________

PUT US TO THE TEST

25


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

MULTIPLE PTERYGIUM SYNDROME (LETHAL TYPE) _______________________________________________________________

NEPHROLITHIASIS AND NEPHROCALCINOSIS _______________________________________________________________

1361 NEXTGEN PANEL $1,440 _______________________________________________________________ CHRNA1 CHRND CHRNE CHRNG COLQ CNTN1 DOK7 GLE1 KLHL40 MUSK RAPSN _______________________________________________________________

2621 NEXTGEN PANEL $1,940 _______________________________________________________________ ADCY10 AGXT APRT ATP6VOA4 ATP6V1B1 CA2 CASR CLCN5 CLDN16 CLDN19 CYP24A1 FAM20A GRHPR HNF4A HOGA1 HPRT1 KCNJ1 OCRL SLC12A1 SLC22A12 SLC26A1 SLC2A9 SLC34A1 SLC34A3 SLC3A1 SLC4A1 SLC7A9 SLC9A3R1 VDR XDH _______________________________________________________________

MULTIPLE SULFATASE DEFICIENCY _______________________________________________________________ 512 SUMF1 $680 _______________________________________________________________

MULTIPLE SYNOSTOSES SYNDROME _______________________________________________________________ 852 GDF5 $520 1620 NOG $440 _______________________________________________________________

MUTYH ADENOMATOUS POLYPOSIS (MAP) _______________________________________________________________ 706 MUTYH $790 _______________________________________________________________

MYOCLONUS-DYSTONIA SYNDROME _______________________________________________________________ 165 SGCE $750 _______________________________________________________________

MYOFIBRILLAR MYOPATHY _______________________________________________________________ 1357 NEXTGEN PANEL $1,490 _______________________________________________________________ ACTA1 BAG3 CRYAB DES DNAJB6 FHL1 FLNC LDB3 LMNA MYOT _______________________________________________________________

MYOTONIA CONGENITA _______________________________________________________________ 5083 CLCN1 $990 _______________________________________________________________

NAIL-PATELLA SYNDROME _______________________________________________________________ 1458 LMX1B $680 _______________________________________________________________

NANCE-HORAN SYNDROME AND CONGENITAL CATARACT _______________________________________________________________ 4969 NHS $990 _______________________________________________________________

NATIVE AMERICAN MYOPATHY _______________________________________________________________ 2112 STAC3 $780 _______________________________________________________________

NAXOS DISEASE _______________________________________________________________ 208 JUP $750 _______________________________________________________________

NDP-RELATED VITREORETINOPATHIES _______________________________________________________________ 1067 NDP $440 _______________________________________________________________

NEMALINE MYOPATHY _______________________________________________________________ 356 NEB Exon 55 Deletion Test $2,50 2079 NEB Exons 82-105 $1,440 _______________________________________________________________ 1367 NEXTGEN PANEL $2,290 _______________________________________________________________ ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3 NEB TNNT1 TPM2 TPM3 _______________________________________________________________

NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS _______________________________________________________________ 981 AVPR2 $580 _______________________________________________________________

NEPHROLITHIASISS _______________________________________________________________ 3785 SLC26A1 $680 _______________________________________________________________

26

NEPHRONOPHTHISIS AND SENIOR-LOKEN SYNDROME _______________________________________________________________ 1058 NEXTGEN PANEL $1,840 _______________________________________________________________ ANKS6 CEP164 CEP290 CEP83 DCDC2 GLIS2 INVS IQCB1 NEK8 NPHP1 NPHP3 NPHP4 RPGRIP1L SDCCAG8 TEMEM67 TTC21B WDR19 ZNF423 _______________________________________________________________

NEPHRONOPHTHISIS LIKE MYOPATHTY _______________________________________________________________ 658 XPNPEP3 $790 _______________________________________________________________

NEPHROTIC SYNDROME _______________________________________________________________ 1335 NEXTGEN PANEL - STEROID RESISTANT $1,990 _______________________________________________________________ ACTN4 ANLN ARHGAP24 ARHGDIA CD2AP COL4A3 COL4A4 COL4A5 COL4A6 COQ2 COQ6 COQ8B CRB2 CUBN DGKE EMP2 FAT1 INF2 ITGA3 ITGB4 KANK1 KANK2 KANK4 LAMB2 LMX1B MYO1E NEIL1 NEXMIF NPHS1 NPHS2 NUP107 NUP205 NUP93 PAX2 PDSS2 PLCE1 PTPRO SCARB2 SMARCAL1 TRPC6 TTC21B WDR73 WT1 XPO5 _______________________________________________________________

NETHERTON SYNDROME _______________________________________________________________ 3229 SPINK5 $990 _______________________________________________________________

NEU-LAXOVA SYNDROME 1 _______________________________________________________________ 3384 PHGDH $810 _______________________________________________________________

NEUROBLASTOMA _______________________________________________________________ 5057 NEXTGEN PANEL $1,770 _______________________________________________________________ ALK KIF1B PHOX2B _______________________________________________________________

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION AND INFANTILE NEUROAXONAL DYSTROPHY _______________________________________________________________ 2695 NEXTGEN PANEL $2,390 _______________________________________________________________ ATP13A2 C19orf12 COASY CP DCAF17 FA2H FTL NALCN PANK2 PLASG6 WDR45 _______________________________________________________________

NEURODEGENERATION, INFANTILE NEUROAXONAL DYSTROPHY AND PARKINSON DISEASE _______________________________________________________________ 1731 PLA2G6 $990 _______________________________________________________________

NEUROFIBROMATOSIS _______________________________________________________________ 118 NF2 $910 _______________________________________________________________

NEUROFIBROMATOSIS TYPE 1 AND RELATED DISORDERS _______________________________________________________________ 4361 NF1 $990 _______________________________________________________________

NEUROFIBROMATOSIS TYPE 1 AND LEGIUS SYNDROME _______________________________________________________________ 3413 NEXTGEN PANEL $1,440 _______________________________________________________________ NF1 SPRED1 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

NEURONAL CEROID-LIPOFUSCINOSIS _______________________________________________________________

NON-SYNDROMIC MONOGENIC OBESITY _______________________________________________________________

1909 NEXTGEN PANEL $1,490 _______________________________________________________________ ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD CTSF DNAJC5 GRN KCTD7 MFSD8 PPT1 TPP1 _______________________________________________________________

5033 NEXTGEN PANEL $1,490 _______________________________________________________________ LEP LEPR MC4R PCSK1 POMC _______________________________________________________________

NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY _______________________________________________________________

2012 LCAT $650 _______________________________________________________________

NORUM DISEASE _______________________________________________________________

599 PNPLA2 $820 _______________________________________________________________

OBESITY _______________________________________________________________

NEVOID BASAL CELL CARCINOMA / GORLIN SYNDROME _______________________________________________________________

1512 MC4R $610 _______________________________________________________________

1157 PTCH1 $1,130 1281 SUFU $840 _______________________________________________________________

641 COL18A1 $1,750 _______________________________________________________________

NIEMANN-PICK DISEASE _______________________________________________________________ 472 SMPD1 $750 _______________________________________________________________ 3425 NEXTGEN PANEL $1,440 _______________________________________________________________ NPC1 NPC2 _______________________________________________________________

NIJMEGAN BREAKAGE SYNDROME _______________________________________________________________ 4837 NBN $990 _______________________________________________________________

NOCTURNAL FRONTAL LOBE EPILEPSY (AUTOSOMAL DOMINANT) _______________________________________________________________ 2681 CHRNA4 $990 1180 CHRNB2 $650 3111 KCNT1 $990 _______________________________________________________________

NONAKA MYOPATHY _______________________________________________________________ 367 GNE $810 _______________________________________________________________

NONBULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA _______________________________________________________________ 1162 ALOX12B $990 1164 ALOXE3 $940 _______________________________________________________________

NOONAN SPECTRUM DISORDERS _______________________________________________________________ 4361 NF1 $990 _______________________________________________________________ 1309 NEXTGEN PANEL $1,290 _______________________________________________________________ BRAF CBL HRAS KAT6B KRAS LZTR1 MAP2K1 MAP2K2 NRAS PTPN11 RAF1 RIT1 SHOC2 SOS1 SOS2 _______________________________________________________________

NON-SYNDROMIC INTELLECTUAL DISABILITY (NS-ID) _______________________________________________________________ 5059 NEXTGEN PANEL $2,340 _______________________________________________________________ ACSL4 ADNP AFF2 AP1S2 ARHGEF9 ARID1B ARX ATRX BCL11A BRWD3 CC2D1A CDH15 CHD2 CIC CLCN4 CNTNAP2 CRBN CTNNB1 CUL4B DCPS DDX3X DEAF1 DLG3 ELP2 FGD1 FMN2 FOXG1 FTSJ1 GATAD2B GDI1 GRIA3 GRIN1 GRIN2B HIVEP2 HUWE1 IL1RAPL1 IQSEC2 KDM5C KIRREL3 MAN1B1 MBD5 MECP2 MED13L MED23 MED25 MEF2C METTL23 MYT1L NAA10 NDST1 NLGN4X OPHN1 PAK3 PQBP1 PRSS12 PTCHD1 RAB39B RPS6KA3 SCN2A SCN8A SETBP1 SETD5 SHANK3 SIN3A SLC16A2 SLC2A1 SLC9A6 SMC1A SNX14 STXBP1 TBC1D24 TBR1 TCF4 TRAPPC9 TRIO TSPAN7 TUSC3 UBE2A UPF3B WASHC4 ZC3H14 ZDHHC9 ZNF711 _______________________________________________________________

OCCIPITAL ENCEPHALOCELE _______________________________________________________________ OCULAR ALBINISM _______________________________________________________________ 1493 GPR143 $810 _______________________________________________________________

OCULOCUTANEOUS ALBINISM _______________________________________________________________ 3738 OCA2 deletion $490 _______________________________________________________________ 1937 NEXTGEN PANEL $1,440 _______________________________________________________________ C10orf11 GPR143 HPS6 LYST MC1R MITF MYO5A OCA2 RAB27A SLC24A5 SLC45A2 TYR TYRP1 _______________________________________________________________

OCULODENTODIGITAL DYSPLASIA _______________________________________________________________ 1506 GJA1 $250 _______________________________________________________________

OCULOFACIOCARDIODENTAL SYNDROME AND LENZ MICROPHTHALMIA SYNDROME _______________________________________________________________ 4563 BCOR $990 _______________________________________________________________

OGUCHI DISEASE _______________________________________________________________ 1678 SAG $910 _______________________________________________________________

OHDO SYNDROME _______________________________________________________________ 398 MED12 $1,850 _______________________________________________________________

OLIGODONTIA-COLORECTAL CANCER _______________________________________________________________ 719 AXIN2 $840 _______________________________________________________________

OMENN SYNDROME _______________________________________________________________ 3289 NEXTGEN PANEL $1,390 _______________________________________________________________ DCLRE1C IL7R RAG1 RAG2 _______________________________________________________________

OOCYTE MATURATION DEFECT _______________________________________________________________ 1759 ZP1 $940 _______________________________________________________________

OPHTHALMOPLEGIA _______________________________________________________________ 1255 TWNK $680 3255 DNA2 $990 _______________________________________________________________

OPTIC ATROPHY _______________________________________________________________ 1729 TMEM126A $540 _______________________________________________________________ 1901 NEXTGEN PANEL $1,590 _______________________________________________________________ ACO2 AUH C12orf65 CISD2 MFN2 MTPAP NUDFS1 NR2F1 OPA1 OPA3 POLG SLC24A1 SPG7 TIMM8A TMEM126A WFS1 _______________________________________________________________

PUT US TO THE TEST

27


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

ORGANIC ACIDURIA _______________________________________________________________

PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC _______________________________________________________________

5099 NEXTGEN PANEL $1,490 _______________________________________________________________ ACAT1 ACSF3 ALDH6A1 BCKDHA BCKDHB CD320 D2HGDH DBT DLD ETFA ETFB ETFDH GCDH HLCS IDH2 IVD L2HGDH MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MUT PCCA PCCB SLC25A1 _______________________________________________________________

2098 KRT9 $910 _______________________________________________________________

OROL-FACIAL-DIGIAL SYNDROME I _______________________________________________________________

855 TNFRSF11B $560 _______________________________________________________________ 850 SEQUENTIAL PANEL $790 - $1,600 _______________________________________________________________

4609 OFD1 $990 _______________________________________________________________

OROTIC ACIDURIA _______________________________________________________________ 1430 UMPS $750 _______________________________________________________________

OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA _______________________________________________________________ 3061 COL2A1 $990 1792 MMP13 $750 _______________________________________________________________

OSTEOGENESIS IMPERFECTA AND HYPOPHOSPHATASIAY _______________________________________________________________ 3249 NEXTGEN PANEL $2,390 _______________________________________________________________ ALPL BMP1 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 IFITM5 LRP5 P3H1 PLOD2 PLS3 PPIB SEC24D SERPINF1 SERPINH1 SP7 TMEM38B WNT1 _______________________________________________________________

OSTEOGENESIS IMPERFECTA AND HYPOPHOSPHATASIA (HPP), AND INHERITED HYPOPHOSPHATEMIC RICKETS _______________________________________________________________ 3253 NEXTGEN PANEL $2,450 _______________________________________________________________ ALPL BMP1 COL1A1 COL1A2 CREB3L1 CRTAP CYP27B1 DMP1 ENPP1 FGF23 FKBP10 IFITM5 LRP5 P3H1 PHEX PLOD2 PLS3 PPIB SEC24D SERPINF1 SERPINH1 SLC34A3 SP7 TMEM38B WNT1 _______________________________________________________________

OSTEOPETROSIS _______________________________________________________________

PALLISTER-HALL SYNDROME _______________________________________________________________ 380 GLI3 $1,020 _______________________________________________________________

PAGET DISEASE OF BONE _______________________________________________________________

SQSTM1 TNFRSF11A _______________________________________________________________

PAIN DISORDERS _______________________________________________________________ 3067 SCN9A $990 _______________________________________________________________

PAN CARDIOMYOPATHY _______________________________________________________________ 5263 NEXTGEN PANEL $1,980 _______________________________________________________________ ABCC9 ACTC1 ACTN2 ALMS1 ANKRD1 BAG3 BRAF CALR3 CAV3 CAVIN4 CRYAB CSRP3 DES DMD DOLK DPP6 DSC2 DSG2 DSP DTNA EMD EYA4 FHL1 FHL2 FKRP FKTN GAA GATAD1 GLA HCN4 HRAS ILK JPH2 JUP KRAS LAMA4 LAMP2 LDB3 LMNA MAP2K1 MAP2K2 MIB1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYO6 MYOZ2 MYPN NEXN NKX2-5 NRAS PDLIM3 PKP2 PLN PRDM16 PRKAG2 PRKAR1A PTPN11 RAF1 RBM20 RYR2 SCN5A SCO2 SGCD SGCG SOS1 TAZ TCAP TGFB3 TGFBR2 TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL _______________________________________________________________

PANCREATIC CANCER _______________________________________________________________ 1343 NEXTGEN PANEL $1,490 _______________________________________________________________ APC ATM BRCA1 BRCA2 CDKN2A MLH1 MSH2 MSH6 PALB2 PMS2 STK11 TP53 _______________________________________________________________

1489 CA2 $810 1485 CLCN7 $1,250 1486 OSTM1 $610 1487 SNX10 $650 1484 TCIRG1 $1,100 2379 TNFSF11 $540 _______________________________________________________________

PAPILLON-LEFEVRE SYNDROME _______________________________________________________________

OVARIAN CANCER _______________________________________________________________

PARKINSON’S DISEASE _______________________________________________________________

3173 SMARCA4 $990 _______________________________________________________________

OVARIAN DYSGENESIS _______________________________________________________________ 733 BMP15 $490 732 FSHR $860 _______________________________________________________________

OVARIAN HYERSTIMULATION _______________________________________________________________

772 CTSC $770 _______________________________________________________________

PARASTREMMATIC DYSPLASIA _______________________________________________________________ 833 TRPV4 $890 _______________________________________________________________

3451 NEXTGEN PANEL $1,590 _______________________________________________________________ ATP13A2 DNAJC6 FBXO7 GBA GCH1 LRRK2 MAPT PARK2 PARK7 PINK1 PLA2G6 RAB39B SLC6A3 SNCA SYNJ1 TAF1 _______________________________________________________________

PAROXYSMAL PARALYTIC RHABDOMYOLYSIS WITH MYOGLOBINURIA _______________________________________________________________

734 FSHB $370 738 FSHR $860 _______________________________________________________________

369 LPIN1 $1,080 319 LPIN1 Exons 18-19 deletion $250 _______________________________________________________________

OXIDOREDUCTASE DEFICIENCY _______________________________________________________________

PEDIATRIC GRANULOMATOUS ARTHRITIS _______________________________________________________________

1032 POR $910 _______________________________________________________________

28

5081 NOD2 $990 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

PEELING SKIN SYNDROME _______________________________________________________________

PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY _______________________________________________________________

2096 TGM5 $870 _______________________________________________________________

3384 PHGDH $810 _______________________________________________________________

PELGER-HUET ANOMALY AND GREENBERG SKELETAL DYSPLASIA _______________________________________________________________

PHOSPHOGLYCERATE KINASE DEFICIENCY _______________________________________________________________

1033 LBR $870 _______________________________________________________________

PELIZAEUS-MERZBACHER DISEASE _______________________________________________________________ 307 PLP1 $610 _______________________________________________________________

PENDRED SYNDROME _______________________________________________________________ 4861 SLC26A4 $990 _______________________________________________________________

PERIODIC FEVER SYNDROMES _______________________________________________________________ 1931 NEXTGEN PANEL $1,440 _______________________________________________________________ CARD14 ELANE IL36RN LPIN2 MEFV MVK NLRP12 NLRP3 NOD2 PSMB8 PSTPIP1 TNFAIP3 TNFRSF1A _______________________________________________________________

PERIPHERAL NEUROPATHIES _______________________________________________________________ 2141 HINT1 $490 _______________________________________________________________

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY _______________________________________________________________ 3483 ARFGEF2 $990 _______________________________________________________________

PERLMAN SYNDROME _______________________________________________________________ 1709 DIS3L2 $1,220 _______________________________________________________________

PERRY SYNDROME _______________________________________________________________ 3199 DCTN1 $990 _______________________________________________________________

PEROXISOME BIOGENESIS DISORDERS, ZELLWEGER SYNDROME SPECTRUM _______________________________________________________________ 1979 NEXTGEN PANEL $1,690 _______________________________________________________________ ABCD1 ABCD3 ACOX1 AGPS DNM1L GNPAT HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH _______________________________________________________________

PERRAULT SYNDROME _______________________________________________________________ 1548 CLPP $650 1547 HARS2 $780 1549 LARS2 $1,160 _______________________________________________________________

PETERS PLUS SYNDROME _______________________________________________________________ 1671

B3GLCT $1,060

PEUTZ-JEGHERS SYNDROME _______________________________________________________________

1843 PGK1 $810 _______________________________________________________________

PIEBALDISM _______________________________________________________________ 4697 KIT $990 _______________________________________________________________

PIERSON SYNDROME _______________________________________________________________ 4067 LAMB2 $990 _______________________________________________________________

PITT-HOPKINS SYNDROME _______________________________________________________________ 1533 TCF4 $1,100 _______________________________________________________________

PITX2-RELATED DISORDERS _______________________________________________________________ 1675 PITX2 $580 _______________________________________________________________

PLATELET FUNCTION DISORDER _______________________________________________________________ 1377 NEXTGEN PANEL $1,640 _______________________________________________________________ ANO6 AP3B1 BLOC1S3 CD36 DTNBP1 GP1BA GP1BB GP6 GP9 HPS1 HPS3 HPS4 HPS5 HPS6 ITGA2 ITGA2B ITGB3 P2RX1 P2RY12 PLAU TBXA2R TBXAS1 _______________________________________________________________

POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS _______________________________________________________________ 135 FAM111B $810 _______________________________________________________________

POLYCYSTIC KIDNEY DISEASE _______________________________________________________________ 1919 NEXTGEN PANEL - AUTOSOMAL DOMINANT $1,990 _______________________________________________________________ GANAB HNF1B PKD1 PKD2 _______________________________________________________________ 1927 NEXTGEN PANEL $2,290 _______________________________________________________________ GANAB HNF1B PKD1 PKD2 PKHD1 _______________________________________________________________

POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY _______________________________________________________________ 3429 NEXTGEN PANEL $990 _______________________________________________________________ TREM2 TYROBP _______________________________________________________________

POLYCYSTIC LIVER DISEASE _______________________________________________________________ 1929 NEXTGEN PANEL $2,140 _______________________________________________________________ GANAB LRP5 PKD1 PKD2 PRKCSH SEC63 _______________________________________________________________

PONTOCEREBELLAR HYPOPLASIA _______________________________________________________________

1524 SHANK3 $1,590 _______________________________________________________________

1208 EXOSC3 $580 309 RARS2 $1,130 305 TSEN2 $810 306 TSEN34 $520 298 TSEN54 $830 308 VRK1 $840 _______________________________________________________________

PHENYLKETONURIA _______________________________________________________________

PORPHYRIA _______________________________________________________________

711 STK11 $710 _______________________________________________________________

PHELAN-MCDERMID SYNDROME _______________________________________________________________

530 PAH $810 _______________________________________________________________

4931 NEXTGEN PANEL $1,390 _______________________________________________________________ ALAD ALAS2 CPOX FECH HMBS PPOX UROD UROS _______________________________________________________________

PUT US TO THE TEST

29


TEST NAME

PRICE

POPLITEAL PTERYGIUM SYNDROME AND VAN DER WOUDE SYNDROME _______________________________________________________________ 896 IRF6 $670 897 RIPK4 $810 _______________________________________________________________

POPLITEAL PTERYGIUM SYNDROME 2, LETHAL TYPE _______________________________________________________________ 897 RIPK4 $810 _______________________________________________________________

POSTERIOR MICROPHTHALMIA _______________________________________________________________

TEST NO.

TEST NAME

PRICE

PRIMARY IMMUNODEFICIENCY _______________________________________________________________ 1730 PIK3CD $1,310 1835 IRAK4 $910 _______________________________________________________________

PRIMARY MICROCEPHALY _______________________________________________________________ 1105 SEQUENTIAL PANEL $780 - $8340 _______________________________________________________________ ASPM CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62 _______________________________________________________________

2013 PRSS56 $780 _______________________________________________________________

PRIMARY MACRONODULAR ADRENAL HYPERPLASIA _______________________________________________________________

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY _______________________________________________________________

1899 ARMC5 $910 _______________________________________________________________

1676 VSX1 $650 _______________________________________________________________

PRIMARY OPEN ANGLE GLAUCOMA _______________________________________________________________

POTOCKI-LUPSKI SYNDROMES _______________________________________________________________

569 MYOC $780 _______________________________________________________________

1519 RAI1 $1,020 _______________________________________________________________

PRADER-WILLI SYNDROME _______________________________________________________________ 2056 SNRPN by MS-MLPA $540 _______________________________________________________________

PREAXIAL POLYDACTYLY _______________________________________________________________

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE _______________________________________________________________ 1292 PDE11A $1,250 _______________________________________________________________

PRIMARY PERIODIC PARALYSIS _______________________________________________________________

380 GLI3 $1,020 _______________________________________________________________

4523 NEXTGEN PANEL $1,490 CACNA1S KCNJ2 SCN4A _______________________________________________________________

PRIMARY ALDOSTERONISM _______________________________________________________________

PRIMORDIAL DWARFISM _______________________________________________________________

4957 CACNA1D $1,590 _______________________________________________________________ 3023 NEXTGEN PANEL $1,590 _______________________________________________________________ CACNA1 CACNA1H KCNJ5 _______________________________________________________________

PRIMARY CILIARY DYSKINESIA (PCD) / IMMOTILE CILIA SYNDROME AND CYSTIC FIBROSIS _______________________________________________________________ 1059 NEXTGEN PANEL $1,990 _______________________________________________________________ AAK7 ARMC4 C21orf59 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CFTR DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 INVS LRRC6 MCIDAS NME8 OFD1 PIH1D3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 TTC25 ZMYND10 _______________________________________________________________

PRIMARY CILIARY DYSKINESIA (PCD) / IMMOTILE CILIA SYNDROM _______________________________________________________________ 4543 NEXTGEN PANEL $1,990 _______________________________________________________________ AK7 ARMC4 C21orf59 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 INVS LRRC6 MCIDAS NME8 OFD1 PIH1D3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 TTC25 ZMYND10 _______________________________________________________________

3751 LARP7 $1,060 3701 POC1A $780 3755 XRCC4 $750 _______________________________________________________________

PROGRESSIVE BULBAR PALSY / SENSORINEURAL DEAFNESS _______________________________________________________________ 417 SLC52A3 $630 _______________________________________________________________

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH DNA DELETIONS _______________________________________________________________ 4613 POLG $990 1248 POLG2 $710 1250 SLC25A4 $580 _______________________________________________________________

PROGRESSIVE MYOCLONIC EPILEPSY _______________________________________________________________ 2064 GOSR2 $650 _______________________________________________________________

PROPHYRIA CUTANEA TARDA TYPE II _______________________________________________________________ 775 UROD $680 _______________________________________________________________

PROPIONIC ACIDEMIA _______________________________________________________________ 3291 NEXTGEN PANEL $1,440 PCCA PCCB _______________________________________________________________

PROTEIN C DEFICIENCY _______________________________________________________________

PRIMARY FAMILIAL AND CONGENITAL POLYCYTHEMIA _______________________________________________________________

1575 PROC $710 _______________________________________________________________

1649 EPOR $750 _______________________________________________________________

PROTEIN S DEFICIENCY _______________________________________________________________

PRIMARY HYPEROXALURIA _______________________________________________________________

1654 PROS1 $910 _______________________________________________________________

4531 NEXTGEN PANEL $1,440 _______________________________________________________________ AGXT GRHPR HOGA1 _______________________________________________________________

PROTEIN S DEFICIENCY _______________________________________________________________

30

1654 PROS1 $910 _______________________________________________________________



TEST NAME

PRICE

PAROXYSMAL NONKINESIGENIC DYSKINESIA _______________________________________________________________

TEST NO.

TEST NAME

PRICE

162 PNKD $710 _______________________________________________________________

PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY _______________________________________________________________

PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES _______________________________________________________________

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY _______________________________________________________________

1441 LIAS $840 _______________________________________________________________

4899 SLC4A4 $990 _______________________________________________________________

1440 PDP1 $580 _______________________________________________________________

PRPS1-RELATED DISORDERS _______________________________________________________________

PYRUVATE DEHYDROGENASE E2 DEFICIENCY _______________________________________________________________

1550 PRPS1 $680 _______________________________________________________________

1439 DLAT $990 _______________________________________________________________

PSEUDOACHONDROPLASTIC DYSPLASIA _______________________________________________________________

PYRUVATE DEHYDROGENASE E1A DEFICIENCY _______________________________________________________________

4585 COMP $990 _______________________________________________________________

1436 PDHA1 $810 _______________________________________________________________

PSEUDOHYPOALDOSTERONISM TYPE 1 _______________________________________________________________

PYRUVATE DEHYDROGENASE E1SS DEFICIENCY _______________________________________________________________

1271 NR3C2 $910 1272 SCNN1A $780 1273 SCNN1B $870 1274 SCNN1G $780 _______________________________________________________________

1437 PDHB $750 _______________________________________________________________

PSEUDOHYPOALDOSTERONISM TYPE 2 _______________________________________________________________

1438 PDHX $990 _______________________________________________________________

PYRUVATE DEHYDROGENASE E3 BINDING PROTEIN DEFICIENCY _______________________________________________________________

1280 NEXTGEN PANEL $1,490 _______________________________________________________________ CUL3 KLHL3 WNK1 WNK4 _______________________________________________________________

PYRUVATE KINASE DEFICIENCY _______________________________________________________________

PTEN HAMARTOMA TUMOR SYNDROME _______________________________________________________________

RAPP HODGKIN SYNDROME _______________________________________________________________

707 PTEN $810 _______________________________________________________________

PTERIN-4 - CARBINOLAMINE DEHYDRATASE DEFICIENCY _______________________________________________________________ 1869 PCBD1 $490 _______________________________________________________________

PULMONARY ARTERIAL HYPERTENSION _______________________________________________________________ 801 BMPR2 $1,130 _______________________________________________________________

PULMONARY FIBROSIS SYNDROME _______________________________________________________________ 2307 SFTPA2 $690 _______________________________________________________________

PULMONARY FIBROSIS AND SURFACTANT DYSFUNCTION DISORDERS _______________________________________________________________ 2697 NEXTGEN PANEL $1,490 _______________________________________________________________ ABCA3 CSF2RB ELMOD2 NKX2-1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT _______________________________________________________________

PYRIDOXINE 5’-PHOSPHATE OXIDASE DEFICIENCY _______________________________________________________________ 2083 PNPO $680 _______________________________________________________________

PYRIDOXINE-DEPENDENT EPILEPSY _______________________________________________________________ 4091 ALDH7A1 $990 _______________________________________________________________

PYRUVATE CARBOXYLASE DEFICIENCY _______________________________________________________________ 4827 PC $990 _______________________________________________________________

PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY _______________________________________________________________ 5035 NEXTGEN PANEL $1,710 _______________________________________________________________ DLAT DLD PDHA1 PDHB PSHX PDP1 _______________________________________________________________

1652 PKLR $840 _______________________________________________________________

834 TP63 $870 _______________________________________________________________

REDUCING BODY MYOPATHY _______________________________________________________________ 1039 FHL1 $680 _______________________________________________________________

REFSUM DISEASE _______________________________________________________________ 1094 PEX7 $780 1082 PHYH $840 _______________________________________________________________

RENAL CANCER _______________________________________________________________ 1331 NEXTGEN PANEL $2,590 _______________________________________________________________ BAP1 CDC73 FH FLCN MET MLH1 MSH2 MSH6 PMS2 PTEN SDHB SDHC SDHD SMARCB1 TP53 TSC1 TSC2 VHL WT1 _______________________________________________________________

RENAL CELL CARCINOMA _______________________________________________________________ 3207 MET $990 _______________________________________________________________

RENAL COLOBOMA SYNDROME _______________________________________________________________ 493 PAX2 $780 _______________________________________________________________

RENAL CYSTS AND DIABETES SYNDROME _______________________________________________________________ 494 HNF1B $780 _______________________________________________________________

RENAL HYPODYSPLASIA _______________________________________________________________ 1685 SIX2 $490 _______________________________________________________________

RENAL HYPOMAGNESEMIA _______________________________________________________________ 1464 CLDN16 $580 1465 CLDN19 $540 _______________________________________________________________

PUT US TO THE TEST

31


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

RENAL HYPOPLASIA _______________________________________________________________

RETT-LIKE SYNDROME _______________________________________________________________

493 PAX2 $780 _______________________________________________________________

4121 CDKL5 $990 _______________________________________________________________

RENAL HYPOURICEMIA TYPE 2 _______________________________________________________________

REVESZ SYNDROME _______________________________________________________________

2028 SLC2A9 $940 _______________________________________________________________

1123 TINF2 $710 _______________________________________________________________

RENAL TUBULAR DYSGENESIS _______________________________________________________________

RHABDOID TUMOR PREDISPOSITION SYNDROME _______________________________________________________________

2657 NEXTGEN PANEL $1,440 _______________________________________________________________ ACE AGT AGTR1 REN _______________________________________________________________

1202 SMARCB1 $810 _______________________________________________________________

RETINITIS PIGMENTOSA _______________________________________________________________

4551 AGPS $990 4593 GNPAT $990 1094 PEX7 $780 _______________________________________________________________

2699 NEXTGEN PANEL - COMPREHENSIVE $2,890 _______________________________________________________________ ABCA4 ABHD12 ADGRA3 AIPL1 ARL2BP ARL6 BEST1 C1QTNF5 C2orf71 C8orf37 CA4 CACNA1F CDHR1 CEP290 CERKL CHM CLN3 CLRN1 CNGA1 CNGB1 CRB1 CRX DHDDS EMC1 EYS FAM161A FLVCR1 FSCN2 GUCA1B GUCY2D IDH3B IMPDH1 IMPG2 INPP5E KIAA1549 KLHL7 LCA5 LRAT MAK MERTK MFRP NEUROD1 NR2E3 NRL OFD1 PDE6A PDE6B PDE6G PITPNM3 PLA2G5 PRCD PRKCG PROM1 PRPF3 PRPF31 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 RGR RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RPGRIP1 SAG SEMA4A SLC7A14 SNRNP200 SPATA7 TOPORS TTC8 TULP1 USH2A ZNF513 _______________________________________________________________ 4311 NEXTGEN PANEL - AUTOSOMAL RECESSIVE $2,240 _______________________________________________________________ ABCA4 ABHD12 ADGRA3 AIPL1 ARL2BP ARL6 BEST1 C2orf71 C8orf37 CDHR1 CEP290 CERKL CLN3 CLRN1 CNGA1 CNGB1 CRB1 DHDDS EMC1 EYS FAM161A FLVCR1 GUCY2D IDH3B IMPG2 INPP5E KIAA1549 LCA5 LRAT MAK MERTK MFRP NEUROD1 NR2E3 NRL PDE6A PDE6B PDE6G PLA2G5 PRCD PROM1 PRPF31 RBP3 RD3 RDH12 RGR RHO RLBP1 RP1 RPE65 RPGRIP1 SAG SEMA4A SLC7A14 SPATA7 TTC8 TULP1 USH2A ZNF513 _______________________________________________________________ 4309 NEXTGEN PANEL - AUTOSOMAL DOMINANT $1,840 _______________________________________________________________

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA _______________________________________________________________

RLBP1 - RELATED DISORDERS _______________________________________________________________ 673 RLBP1 $650 _______________________________________________________________

ROBERTS SYNDROME _______________________________________________________________ 836 ESCO2 $830 _______________________________________________________________

ROBINOW SYNDROME _______________________________________________________________ 136 ROR2 $810 _______________________________________________________________

ROTHMUND-THOMSON SYNDROME _______________________________________________________________ 4945 RECQL4 $990 _______________________________________________________________

ROTOR SYNDROME _______________________________________________________________ 1590 SEQUENTIAL PANEL $970 - $2,070 _______________________________________________________________ SLCOB1B SLCO1B3 _______________________________________________________________

RUBINSTEIN-TAYBI SYNDROME _______________________________________________________________ 1959 NEXTGEN PANEL $1,490 _______________________________________________________________ CREBBP EP300 SRCAP _______________________________________________________________

RYR1-RELATED CONGENITAL MYOPATHIES _______________________________________________________________ 1771 RYR1 $1,190 _______________________________________________________________

BEST1 C1QTNF5 CA4 CRB1 CRX EMC1 EYS FSCN2 GUCA1B IMPDH1 KLHL7 LCA5 NR2E3 NRL PDE6B PITPNM3 PRKCG PRPF3 PRPF6 PRPF8 PRPF31 PRPH2 RHO ROM1 RP1 RPE65 SEMA4A SNRNP200 TOPORS _______________________________________________________________ 3293 NEXTGEN PANEL - X-LINKED $1,740 _______________________________________________________________

SAETHRE-CHOTZEN SYNDROME _______________________________________________________________

CHM OFD1 RP2 RPGR _______________________________________________________________

SANDHOFF DISEASE _______________________________________________________________

RETINOSCHISIS, X-LINKED JUVENILE _______________________________________________________________ 868 RS1 $650 _______________________________________________________________

RETINOBLASTOMA _______________________________________________________________ 4501 RB1 $990 _______________________________________________________________

RETT SYNDROME, ANGELMAN SYNDROME AND VARIANT SYNDROMES _______________________________________________________________ 3257 NEXTGEN PANEL $1,990 _______________________________________________________________ ARX CDKL5 CNTNAP2 FOXG1 MBD5 MECP2 MEF2C NRXN1 SLC9A6 TCF4 UBE3A WDR45 ZEB2 _______________________________________________________________

32

2103 TWIST1 $440 _______________________________________________________________

SALLA DISEASE _______________________________________________________________ 1228 SLC17A5 $840 _______________________________________________________________

476 HEXB $870 _______________________________________________________________

SCHIMKE IMMUNOOSSEOUS DYSPLASIA _______________________________________________________________ 4617 SMARCAL1 $990 _______________________________________________________________

SCHNYDER CRYSTALLINE CORNEAL DYSTROPHY _______________________________________________________________ 1820 UBIAD1 $580 _______________________________________________________________

SCHWANNOMATOSIS _______________________________________________________________ 4371 NEXTGEN PANEL $1,440 _______________________________________________________________ LZTR1 SMARCB1 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

SCOTT SYNDROME _______________________________________________________________

SHPRINTZEN-GOLDBERG SYNDROME _______________________________________________________________

4093 ANO6 $990 _______________________________________________________________

1158 SKI $780 _______________________________________________________________

SEBASTIAN SYNDROME _______________________________________________________________

SHWACHMAN-DIAMOND SYNDROME _______________________________________________________________


1289 SBDS $440 _______________________________________________________________

SECISBP2-RELATED DISORDERS _______________________________________________________________

368 GNE $2,50 _______________________________________________________________

SIALURIA _______________________________________________________________

925 SECISBP2 $990 _______________________________________________________________

SICK SINUS SYNDROME _______________________________________________________________

SE CKEL SYNDROME _______________________________________________________________

947 HCN4 $960 3113 SCN5A $990 _______________________________________________________________

1291 ATR $2,450 1104 CENPJ $1,060 _______________________________________________________________

SENGERS SYNDROME _______________________________________________________________

SIMPSON-GOLABI-BEHMEL SYNDROME _______________________________________________________________ 563 GPC3 $680 _______________________________________________________________

1727 AGK $990 _______________________________________________________________

SINGLETON-MERTON SYNDROME _______________________________________________________________

SEPIAPTERIN REDUCTASE DEFICIENCY _______________________________________________________________

3819 IFIH1 $1,290 _______________________________________________________________

1871 SPR $540 _______________________________________________________________

SITOSTEROLEMIA _______________________________________________________________

SEVERE COMBINED IMMUNODEFICIENCY OMENN SYNDROME _______________________________________________________________

3437 NEXTGEN PANEL $1,440 ABCG5 ABCG8 _______________________________________________________________

4589 DCLRE1C $990 189 IL7R $780 1696 RAG1 $750 1697 RAG2 $580 _______________________________________________________________

SLOW ACETYLATION _______________________________________________________________

SEVERE CONGENITAL NEUTROPENIA _______________________________________________________________

131 ALDH3A2 $750 _______________________________________________________________

1935 NEXTGEN PANEL $1,440 _______________________________________________________________ CSF3R ELANE G6PC3 GATA2 GFI1 HAX1 VPS45 WAS _______________________________________________________________

SHELDON-HALL SYNDROME _______________________________________________________________ 333 TNNI2 $610 334 TNNT3 $860 _______________________________________________________________

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY _______________________________________________________________ 183 ACADS $730 _______________________________________________________________

SHORT QT SYNDROME _______________________________________________________________ 2611 NEXTGEN PANEL $1,740 _______________________________________________________________ CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1 _______________________________________________________________

SHORT-RIB-POLYDACTYLY SYNDROME _______________________________________________________________ 4323 DYNC2H1 $990 _______________________________________________________________

SHORT RIB SKELETAL DYSPLASIA _______________________________________________________________ 1985 NEXTGEN PANEL $1,740 _______________________________________________________________ DYNC2H1 EVC EVC2 FGFR2 FGFR3 IFT122 IFT140 IFT172 IFT80 NEK1 PAPSS2 SLC26A2 SOX9 TCTN3 TTC21B WDR19 WDR34 WDR35 WDR60 _______________________________________________________________

SHORT STATURE _______________________________________________________________ 628 GHSR $540 626 SHOX $520 _______________________________________________________________

1813 NAT2 $440 _______________________________________________________________

SJOGREN-LARSSON SYNDROME _______________________________________________________________ SMALL FIBER NEUROPATHY _______________________________________________________________ 3067 SCN9A $990 _______________________________________________________________

SMALL PATELLA SYNDROME _______________________________________________________________ 859 TBX4 $680 _______________________________________________________________

SMITH-LEMLI-OPITZ SYNDROME _______________________________________________________________ 410 DHCR7 $710 _______________________________________________________________

SMITH-MAGENIS SYNDROME _______________________________________________________________ 1519 RAI1 $1,020 _______________________________________________________________

SORBY-FUNDUS DYSTROPHY _______________________________________________________________ 699 TIMP3 $540 _______________________________________________________________

SOTOS SYNDROME _______________________________________________________________ 4397 NSD1 $990 _______________________________________________________________

SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY _______________________________________________________________ 917 SACS $1,960 _______________________________________________________________

SPASTIC ATAXIA WITH OPTIC ATROPHY _______________________________________________________________ 4189 MTPAP $990 _______________________________________________________________

SPASTIC PARAPLEGIA 26 _______________________________________________________________ 5281 B4GALNT1 $1,590 _______________________________________________________________

PUT US TO THE TEST

33


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

SPASTIC PARAPLEGIA 46 _______________________________________________________________

SPLIT HAND/FOOT MALFORMATION _______________________________________________________________

5425 GBA2 $1590 _______________________________________________________________

834 TP63 $870 _______________________________________________________________

SPASTIC PARAPLEGIA 61 _______________________________________________________________

SPONDYLOCOSTAL DYSOSTOSIS _______________________________________________________________

2496 ARL6IP1 $680 _______________________________________________________________

1422 HES7 $650 1421 TBX6 $750 _______________________________________________________________ 3297 NEXTGEN PANEL $1,590 _______________________________________________________________

SPASTIC PARAPLEGIA, COMPLEX HEREDITARY _______________________________________________________________ 2677 NEXTGEN PANEL $2,340 _______________________________________________________________ AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1 ARSI ATL1 B4GALNT1 BICD2 BSCL2 C12orf65 C19orf12 CCT5 CYP2U1 CYP7B1 DDHD1 DDHD2 ENTPD1 ERLIN2 EXOSC3 FA2H FLRT1 GAD1 GBA2 GJC2 KIF1A KIF1C KIF5A L1CAM MAG MARS NIPA1 NT5C2 PGAP1 PLP1 PNPLA6 RAB3GAP2 REEP1 SLC16A2 SPAST SPG11 SPG20 SPG21 SPG7 TECPR2 TFG USP8 VPS37A WASHC5 WDR48 _______________________________________________________________

SPASTIC PARAPLEGIA, HEREDITARY _______________________________________________________________ 2673 NEXTGEN PANEL $2,540 _______________________________________________________________ AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1 ARSI ATL1 ATP2B4 B4GALNT1 BICD2 BSCL2 C12orf65 C19orf12 CCT5 CYP2U1 CYP7B1 DDHD1 DDHD2 ENTPD1 ERLIN1 ERLIN2 EXOSC3 FA2H FLRT1 GAD1 GBA2 GJC2 HSPD1 KIF1A KIF1C KIF5A L1CAM MAG MARS NIPA1 NT5C2 PGAP1 PLP1 PNPLA6 RAB3GAP2 REEP1 REEP2 RTN2 SLC16A2 SLC33A1 SPAST SPG11 SPG20 SPG21 SPG7 TECPR2 TFG USP8 VPS37A WASHC5 WDR48 ZFR ZFYVE26 ZFYVE27 _______________________________________________________________

SPASTIC PARAPLEGIA, PURE HEREDITARY _______________________________________________________________

DLL3 HES7 LFNG MESP2 TBX6 _______________________________________________________________

SPONDYLOENCHONDRO DYSPLASIA WITH IMMUNE DYSREGULATION _______________________________________________________________ 1151 ACP5 $490 _______________________________________________________________

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE _______________________________________________________________ 833 TRPV4 $890 _______________________________________________________________

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MAROTEAUX TYPE _______________________________________________________________ 833 TRPV4 $890 _______________________________________________________________

SPONDYLOEPIMETAPHYSEAL DYSPLASIA _______________________________________________________________ 625 DDR2 $930 816 MATN3 $770 _______________________________________________________________

SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED _______________________________________________________________ 819 TRAPPC2 $520 _______________________________________________________________

STAPES ANKYLOSIS WITH BROAD THUMB AND TOES _______________________________________________________________ 1620 NOG $440 _______________________________________________________________

2679 NEXTGEN PANEL $2,540 _______________________________________________________________ AP5Z1 ATL1 ATP2B4 BICD2 CYP2U1 CYP7B1 DDHD1 ERLIN1 HSPD1 KIF1A KIF1C KIF5A NIPA1 NT5C2 PLP1 REEP1 REEP2 RTN2 SLC33A1 SPAST SPG11 SPG7 WASHC5 ZFR ZFYVE26 ZFYVE27 _______________________________________________________________

STARGARDT DISEASE AND MACULAR DYSTROPHIES _______________________________________________________________

SPINAL MUSCULAR ATROPHY _______________________________________________________________

SEPTO-OPTIC DYSPLASIA SPECTRUM _______________________________________________________________

1038 DYNC1H1 $3,660 833 TRPV4 $890 107 VAPB $580 _______________________________________________________________

SPHEROCYTOSIS/ELLIPTOCYTOSIS _______________________________________________________________

4315 NEXTGEN PANEL $2,290 _______________________________________________________________ ABCA4 BEST1 C1QTNF5 CDH3 CERKL CNGB3 CRB1 EFEMP1 ELOVL4 FSCN2 GUCA1B IMPG2 PROM1 PRPH2 RBP3 RDH12 RLBP1 RP1L1 RPGR RPGRIP1 RS1 TIMP3 _______________________________________________________________

5283 NEXTGEN PANEL $1,390 _______________________________________________________________ AHESX1 OTX2 PAX6 PROP1 SOX2 _______________________________________________________________

STEROID-RESISTANT NEPHROTIC SYNDROME _______________________________________________________________

1387 NEXTGEN PANEL $1,490 _______________________________________________________________ ANK1 EPB41 EPB42 SLC4A1 SPTA1 SPTB _______________________________________________________________

5217 NUP205 $990 5219 NUP93 $990 5221 XPO5 $990 _______________________________________________________________

SPINOCEREBELLAR ATAXIA _______________________________________________________________

STEROID-RESISTANT NEPHROTIC SYNDROME AND XX FEMALE GONADAL DYSGENESIS _______________________________________________________________

916 ANO10 $860 3227 SETX $990 3247 SYNE1 $990 247 SYNE1 select exons (French Canadian) $650 3753 TMEM240 $680 1255 TWNK $680 1270 WWOX $780 _______________________________________________________________

34

5215 NUP107 $990 _______________________________________________________________

STICKLER SYNDROME _______________________________________________________________ 1319 NEXTGEN PANEL $1,840 _______________________________________________________________ COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 LOXL3 LRP2 VCAN _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

STUTTERING _______________________________________________________________

THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA _______________________________________________________________

3299 NEXTGEN PANEL $1,440 _______________________________________________________________ GNPTAB GNPTG NAGPA _______________________________________________________________

2034 SLC19A2 $650 _______________________________________________________________

SUCCINYL-COA:3-OXOACID COA TRANSFERASE DEFICIENCY _______________________________________________________________

426 FGFR3 $520 _______________________________________________________________

THANATOPHORIC DYSPLASIA _______________________________________________________________

4825 OXCT1 $990 _______________________________________________________________

THIOPURINE S-METHYLTRANSFERASE DEFICIENCY _______________________________________________________________

SUCLG2-RELATED MITOCHONDRIAL DNA DEPLETION SYNDROME _______________________________________________________________

THORACIC AORTIC ANEURYSM AND DISSECTION _______________________________________________________________

1726 SUCLG2 $780 _______________________________________________________________

SUDDEN CARDIAC ARREST _______________________________________________________________ 2609 NEXTGEN PANEL $1,800 _______________________________________________________________ ABCC9 ACTN2 AKAP9 ANK2 CACNA1C CACNB2 CALM1 CASQ2 CAV3 CSRP3 DES DSC2 DSG2 DSP EYA4 FBN1 FBN2 FKTN GPD1L JPH2 JUP KCNA5 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNQ1 LMNA MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 NEXN NRAS RYR2 SCN2B SCN3B SCN4B SCN5A SNTA1 TGFBR2 TNNC1 TNNI3 TNNT2 TPM1 TTR _______________________________________________________________

SULFITE OXIDASE DEFICIENCY _______________________________________________________________ 1872 SUOX $680 _______________________________________________________________

SURFACTANT PROTEIN B DEFICIENCY _______________________________________________________________ 1885 SFTPB $810 _______________________________________________________________

SURFACTANT PROTEIN C DEFICIENCY _______________________________________________________________ 1886 SFTPC $650 _______________________________________________________________

SYMPHALANGISM, PROXIMAL _______________________________________________________________ 852 GDF5 $520 1620 NOG $440 _______________________________________________________________

1816 TPMT $750 _______________________________________________________________

961 ACTA2 $650 3187 MYH11 $990 3209 MYLK $990 939 SMAD3 $780 _______________________________________________________________

THROMBOCYTOPENIA _______________________________________________________________ 1951 NEXTGEN PANEL $1,590 _______________________________________________________________ ADAMTS13 ANKRD26 CYCS GATA1 GP1BA GP1BB GP9 MASTL MPL MYH9 RUNX1 WAS _______________________________________________________________ 4973 NEXTGEN PANEL $1,990 _______________________________________________________________ ABCG5 ABCG8 ACTN1 ADAMTS13 ANKRD26 CYCS FLI1 FLNA GATA1 GFI1B GP1BA GP1BB GP9 HOXA11 ITGA2B ITGB3 MASTL MPL MYH9 NBEAL2 PRKACG RBM8A RUNX1 TUBB1 WAS _______________________________________________________________

THROMBOXANE A2 RECEPTOR DEFICIENCY _______________________________________________________________ 237 TBXA2R $580 _______________________________________________________________

THYROID HORMONE RESISTANCE _______________________________________________________________ 2030 THRB $710 _______________________________________________________________

TIMOTHY SYNDROME _______________________________________________________________ 3195 CACNA1C $990 _______________________________________________________________

TNF-RECEPTOR ASSOCIATED PERIODIC SYNDROME _______________________________________________________________

SYNDROMIC INTELLECTUAL DISABILITY _______________________________________________________________

1463 TNFRSF1A $680 _______________________________________________________________

2084 PURA $680 _______________________________________________________________

TOOTH AGENESIS _______________________________________________________________

SYNDROMIC INTELLECTUAL DISABILITY / AUTISM SPECTRUM DISORDER _______________________________________________________________

3021 NEXTGEN PANEL $1,790 _______________________________________________________________ AXIN2 EDA EDAR EDARADD LTBP3 MSX1 PAX9 WNT10A _______________________________________________________________

2264 DYRK1A $990 _______________________________________________________________

SYNDROMIC MICROPHTHALMIA _______________________________________________________________ 1823 OTX2 $490 _______________________________________________________________

TARSAL-CARPAL COALITION SYNDROME _______________________________________________________________ 1620 NOG $440 _______________________________________________________________

TAY-SACHS DISEASE _______________________________________________________________ 478 GM2A $370 475 HEXA $840 1450 HEXA Deletion $490 _______________________________________________________________

TEMPLE-BARAITSER SYNDROME _______________________________________________________________

TOWNES-BROCKS SYNDROME _______________________________________________________________ 835 SALL1 $890 _______________________________________________________________

TRANSCOBALAMIN II DEFICIENCY _______________________________________________________________ 2186 TCN2 $940 _______________________________________________________________

TRANSCRIPTION FACTORS-DUANE-RADIAL RAY SYNDROME _______________________________________________________________ 832 SALL4 $730 _______________________________________________________________

TRANSIENT INFANTILE LIVER FAILURE _______________________________________________________________ 2954 TRMU $780 _______________________________________________________________

2589 KCNH1 $1,100 _______________________________________________________________

PUT US TO THE TEST

35


TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

TREACHER COLLINS SYNDROME _______________________________________________________________

UVEAL MELANOMA AND MESOTHELIOMA _______________________________________________________________

1953 NEXTGEN PANEL $1,440 _______________________________________________________________ DHODH EFTUD2 POLR1C POLR1D SF3B4 TCOF1 _______________________________________________________________

1176 BAP1 $970 _______________________________________________________________

TRICHORHINOPHALANGEAL SYNDROME _______________________________________________________________

2592 GRHL3 $970 _______________________________________________________________

814 TRPS1 $860 _______________________________________________________________

TRIMETHYLAMINURIA _______________________________________________________________ 324 FMO3 $710 _______________________________________________________________

TRIOSEPHOSPHATE ISOMERASE DEFICIENCY _______________________________________________________________ 1844 TPI1 $680 _______________________________________________________________

TUBEROUS SCLEROSIS COMPLEX _______________________________________________________________

VAN DER WOUDE SYNDROME _______________________________________________________________ VAN MALDERGEM SYNDROME _______________________________________________________________ 2530 DCHS1 $1,900 _______________________________________________________________

VARIEGATE PORPHYRIA _______________________________________________________________ 2275 PPOX $910 _______________________________________________________________

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY _______________________________________________________________

1941 NEXTGEN PANEL WITH DEL/DUP $990 _______________________________________________________________ TSC1 TSC2 _______________________________________________________________

184 ACADVL $750 _______________________________________________________________

TUBULAR AGGREGATE MYOPATHY _______________________________________________________________

2649 NEXTGEN PANEL $1,590 _______________________________________________________________ CAPN5 COL2A1 FZD4 KIF11 LRP5 NDP TSPAN12 VCAN ZNF408 _______________________________________________________________

328 STIM1 $840 _______________________________________________________________

TYK2 DEFICIENCY _______________________________________________________________ 4279 TYK2 $990 _______________________________________________________________

TYROSINE HYDROXYLASE DEFICIENCY _______________________________________________________________ 159 TH $840 _______________________________________________________________

TYROSINEMIA _______________________________________________________________ 541 FAH $580 _______________________________________________________________

TYROSINEMIA TYPE II _______________________________________________________________ 1083 TAT $780 _______________________________________________________________

TYROSINEMIA TYPE III AND HAWKINSINURIA _______________________________________________________________ 1084 HPD $750 _______________________________________________________________

UCP2-RELATED CONGENITAL HYPERINSULINISM _______________________________________________________________ 2155 UCP2 $650 _______________________________________________________________

ULNAR-MAMMARY SYNDROME _______________________________________________________________ 1154 TBX3 $750 _______________________________________________________________

VITREORETINOPATHY _______________________________________________________________

VON HIPPEL-LINDAU DISEASE _______________________________________________________________ 1118 VHL 520 _______________________________________________________________

VON WILLEBRAND DISEASE _______________________________________________________________ 1923 VWF $1,290 _______________________________________________________________

WAARDENBURG SYNDROME _______________________________________________________________ 1393 NEXTGEN PANEL $1,290 _______________________________________________________________ EDN3 EDNRB MITF PAX3 SNAI2 SOX10 _______________________________________________________________

WAGNER SYNDROME _______________________________________________________________ 4655 VCAN $990 _______________________________________________________________

WAGR SYNDROME _______________________________________________________________ 1003 WT1 $840 _______________________________________________________________

WALKER-WARBURG SYNDROME _______________________________________________________________ 1418 POMK $540 _______________________________________________________________ 1301 NEXTGEN PANEL $2,140 _______________________________________________________________

4911 NEXTGEN PANEL $1,490 _______________________________________________________________ ARG1 ASL ASS1 CPS1 NAGS OAT OTC SLC25A13 SLC25A15 _______________________________________________________________

B3GALNT2 B4GAT1 CHKB COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DMD DPM1 DPM2 DPM3 EMD FKRP FKTN GMPPB ISPD ITGA7 LAMA2 LARGE1 LMNA POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5 _______________________________________________________________

UROFACIAL SYNDROME _______________________________________________________________

WARBURG MICRO SYNDROME _______________________________________________________________

UREA CYCLE DISORDERS _______________________________________________________________

2024 HPSE2 $970 2025 LRIG2 $1,100 _______________________________________________________________

2617 NEXTGEN PANEL $1,490 _______________________________________________________________ RAB18 RAB3GAP1 RAB3GAP2 TBC1D20 _______________________________________________________________

USHER SYNDROME _______________________________________________________________

WATSON SYNDROME _______________________________________________________________

1981 NEXTGEN PANEL $1,590 _______________________________________________________________ ADGRV1 CDH23 CIB1 CLRN1 MYO7A PCDH15 PDZD7 USH1C USH1G USH2A WHRN _______________________________________________________________

4361 NF1 $990 _______________________________________________________________

36

WEAVER SYNDROME _______________________________________________________________ 133 EZH2 $1,090 _______________________________________________________________



TEST NAME

PRICE

TEST NO.

TEST NAME

PRICE

WELANDER DISTAL MYOPATHY _______________________________________________________________

OTHER SERVICES

898 TIA1 $940 _______________________________________________________________

DNA BANKING _______________________________________________________________

WEISSENBACHER-ZWEYMULLER SYNDROME _______________________________________________________________ 3127 COL11A2 $990 _______________________________________________________________

WHIM SYNDROME _______________________________________________________________

500 DNA BANKING $169 WITH CLINICAL TEST ORDER $98 _______________________________________________________________ Additional paperwork required

1690 CXCR4 $610 _______________________________________________________________

WILMS TUMOR _______________________________________________________________ 1003 WT1 $840 _______________________________________________________________

WIEACKER-WOLFF SYNDROME _______________________________________________________________ 2094 ZC4H2 $610 _______________________________________________________________

WILSON DISEASE _______________________________________________________________ 460 ATP7B $1,190 _______________________________________________________________

WISKOTT-ALDRICH SYNDROME _______________________________________________________________ 440 WAS $710 _______________________________________________________________

WOLFRAM SYNDROME _______________________________________________________________ 1480 SEQUENTIAL PANEL $440-$1,310 _______________________________________________________________ CISD2 WFS1 _______________________________________________________________

WOLMAN DISEASE _______________________________________________________________ 482 LIPA $680 _______________________________________________________________

WOOLY HAIR SYNDROME _______________________________________________________________ 3149 DSP $990 _______________________________________________________________

X-LINKED ADRENOLEUKODYSTROPHY _______________________________________________________________ 1081 ABCD1 $780 _______________________________________________________________

X-LINKED SIDEROBLASTIC ANEMIA _______________________________________________________________ 1764 ALAS2 $1,020 _______________________________________________________________

XANTHINURIA TYPE 1 _______________________________________________________________ 4661 XDH $990 _______________________________________________________________

XERODERMA PIGMENTOSUM/VARIANT _______________________________________________________________ 1341 NEXTGEN PANEL $1,890 _______________________________________________________________ DDB2 ERCC2 ERCC3 ERCC4 ERCC5 POLH XPA XPC _______________________________________________________________

Y CHROMOSOME DELETION ANALYSIS _______________________________________________________________ 3740 Y Chromosome $440 _______________________________________________________________

ZIMMERMANN-LABAND SYNDROME _______________________________________________________________ 2589 KCNH1 $1,100 _______________________________________________________________

PUT US TO THE TEST

37

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