Browse CTGT's test catalogue by panel.

Abnormal mineralization disorders NGS panel (15 genes) ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
NGS
Del Dup
Achondrogenesis NGS panel (3 genes) COL2A1, SLC26A2, TRIP11
Del Dup
NGS
Adams-Oliver syndrome NGS panel (6 genes) ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
Del Dup
NGS
Alagille syndrome NGS panel (3 genes) ATP8B1, JAG1, NOTCH2
NGS
Del Dup
Alport syndrome NGS panel (4 genes) COL4A3, COL4A4, COL4A5, COL4A6
Del Dup
NGS
Amelogenesis imperfecta and related disorders NGS panel (16 genes) AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72
Del Dup
NGS
Amyotrophic lateral sclerosis and related disorders NGS panel (24 genes) ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
Del Dup
NGS
Aortic aneurysm, familial thoracic 5 / 3 TGFBR1, TGFBR2
Sanger
Del Dup
Arterial calcification, generalized, of infancy NGS panel (2 genes) ABCC6, ENPP1
Del Dup
NGS
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel (13 genes) ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, THBD
NGS
Del Dup
Basal cell nevus syndrome NGS panel (3 genes) PTCH1, PTCH2, SUFU
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel (4 genes) COL12A1, COL6A1, COL6A2, COL6A3
Del Dup
NGS
Brittle cornea syndrome NGS panel (2 genes) PRDM5, ZNF469
NGS
Del Dup
Cantu syndrome NGS panel (2 genes) ABCC9, KCNJ8
Del Dup
NGS
Cerebral cavernous malformations NGS panel (3 genes) CCM2, KRIT1, PDCD10
NGS
Del Dup
Charcot-Marie-Tooth disease NGS panel (42 genes) AARS, AIFM1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4, YARS
NGS
Del Dup
Cholestasis NGS Panel (4 genes) ABCB11, ABCB4, ATP8B1, TJP2
Del Dup
NGS
Chondrodysplasia punctata and related disorders NGS panel (10 genes) AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
NGS
Del Dup
Cole-Carpenter syndrome NGS panel (2 genes) P4HB, SEC24D
Del Dup
NGS
Congenital heart disease NGS panel (15 genes) CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TBX1, TBX20, TBX5, ZIC3
NGS
Del Dup
Cornelia de Lange syndrome NGS panel (5 genes) HDAC8, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Craniosynostosis core NGS panel (5 genes) FGFR1, FGFR2, FGFR3, TCF12, TWIST1
Del Dup
NGS
Craniosynostosis NGS panel (25 genes) CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1
Del Dup
NGS
Cutis laxa NGS panel (7 genes) ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Del Dup
NGS
Dense bone dysplasia NGS panel (14 genes) ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
NGS
Del Dup
Desbuquois dysplasia and related disorders NGS panel (10 genes) B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Desbuquois dysplasia core NGS panel (4 genes) CANT1, CSGALNACT1, IMPAD1, XYLT1
Del Dup
NGS
Distal arthrogryposes NGS panel (10 genes) ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel (24 genes) ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4
NGS
Del Dup
Distal Myopathy (20 genes) ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
NGS
Del Dup
Dyskeratosis congenita NGS panel (12 genes) ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
NGS
Del Dup
Ectodermal dysplasia NGS panel (8 genes) EDA, EDAR, EDARADD, GJB6, HOXC13, KRT74, KRT85, MSX1
NGS
Del Dup
Ectopia lentis NGS panel (2 genes) ADAMTSL4, FBN1
Del Dup
NGS
Ehlers-Danlos syndrome core NGS panel (3 genes) COL3A1, COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant (9 genes) C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive (20 genes) ADAMTS2, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, ZNF469
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive (12 genes) ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469
NGS
Del Dup
Ehlers-Danlos syndrome, classic type NGS panel (2 genes) COL5A1, COL5A2
NGS
Del Dup
Ehlers-Danlos syndrome, periodontal type NGS panel (2 genes) C1R, C1S
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 / 2 (2 genes) B3GALT6, B4GALT7
Del Dup
NGS
Ehlers-Danlos syndrome, type VIIA / VIIB COL1A1, COL1A2
Sanger
Del Dup
Ellis-van Creveld syndrome NGS Panel (2 genes) EVC, EVC2
Del Dup
NGS
Epidermolysis bullosa NGS panel (23 genes) CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, SERPINB8, TGM5
Del Dup
NGS
Exostoses, multiple, type I & II (2 genes) EXT1, EXT2
Sanger
Del Dup
Exudative vitreoretinopathy NGS panel (7 genes) CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
NGS
Del Dup
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel FGFR1, FGFR2, FGFR3
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel FGFR1, FGFR2, FGFR3, TWIST1
Sanger
Fibrillinopathy NGS panel (3 genes) CBS, FBN1, FBN2
NGS
Del Dup
Fibrochondrogenesis NGS panel (2 genes) COL11A1, COL11A2
NGS
Del Dup
Frontometaphyseal dysplasia NGS panel (3 genes) FLNA, MAP3K7, TAB2
NGS
Del Dup
Frontonasal dysplasia 1 / 2 / 3 and Craniofrontonasal syndrome (4 genes) ALX1, ALX3, ALX4, EFNB1
Sanger
Del Dup
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes) GLMN, TEK
Del Dup
NGS
Hereditary Hemorrhagic telangiectasia NGS panel (5 genes) ACVRL1, ENG, GDF2, RASA1, SMAD4
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel (3 genes) FGF23, GALNT3, KL
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic (26 genes) ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, TGM1, TGM5
Del Dup
NGS
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to (2 genes) IGF1, IGF1R
Sanger
Del Dup
Joubert syndrome and related disorders NGS panel (31 genes) AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
NGS
Del Dup
Kenny-Caffey syndrome, type 1 / 2 (2 genes) FAM111A, TBCE
Del Dup
Sanger
Klippel-Feil syndrome NGS panel (5 genes) GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel (31 genes) ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
Del Dup
NGS
Loeys-Dietz syndrome 1 / 2 (2 genes) TGFBR1, TGFBR2
Sanger
Del Dup
Loeys-Dietz syndrome NGS panel (5 genes) SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
Del Dup
Marfan syndrome and Loeys-Dietz syndrome NGS panel (6 genes) FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed (25 genes) ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible ACTA2, COL3A1, FBN1, MYH11, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
NGS
Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
Del Dup
NGS
Meier-Gorlin syndrome NGS panel (7 genes) CDC45, CDC6, CDT1, GMNN, ORC1, ORC4, ORC6
NGS
Del Dup
Metaphyseal anadysplasia NGS panel (2 genes) MMP13, MMP9
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel (18 genes) ATR, ATRIP, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, DNA2, GMNN, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP
Del Dup
NGS
Mucopolysaccharidosis NGS panel (14 genes) ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH
NGS
Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel (7 genes) COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
NGS
Del Dup
Multiple pterygium syndrome, lethal type (3 genes) CHRNA1, CHRND, CHRNG
Sanger
Del Dup
Myofibrillar myopathy and related disorders NGS panel (11 genes) ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
NGS
Del Dup
Nephrotic syndrome and related disorders NGS panel (32 genes) ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, INF2, ITGA3, ITGB4, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WDR73, WT1
Del Dup
NGS
Neu-Laxova syndrome 1 / 2 (2 genes) PHGDH, PSAT1
Sanger
Del Dup
Neurofibromatosis and related disorders NGS panel (6 genes) MLH1, MSH2, MSH6, NF1, NF2, SPRED1
NGS
Del Dup
Noonan spectrum disorder NGS panel (24 genes) A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
NGS
Del Dup
Oligodontia - Selective tooth agenesis NGS panel (9 genes) AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
NGS
Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 panel (2 genes) COL1A1, COL1A2
Del Dup
NGS
Osteogenesis imperfecta core NGS panel (3 genes) COL1A1, COL1A2, IFITM5
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant (7 genes) ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive (23 genes) ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive (18 genes) ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel (28 genes) AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
NGS
Del Dup
Osteopetrosis core NGS panel (3 genes) CLCN7, OSTM1, TCIRG1
Del Dup
NGS
Osteopetrosis NGS panel (14 genes) AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
NGS
Del Dup
Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Pfeiffer syndrome FGFR1, FGFR2
Sanger
Platelet bleeding disorders NGS panel (32 genes) ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Del Dup
NGS
Porencephaly NGS panel (2 genes) COL4A1, COL4A2
NGS
Del Dup
Pseudoxanthoma elasticum NGS panel (2 genes) ABCC6, GGCX
Del Dup
NGS
Pulmonary hypertension NGS panel (9 genes) ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9
Del Dup
NGS
Robinow syndrome NGS panel (4 genes) DVL1, DVL3, ROR2, WNT5A
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel (2 genes) CREBBP, EP300
Del Dup
NGS
Saethre-Chotzen syndrome FGFR3, TWIST1
Sanger
Del Dup
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel (6 genes) EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel (15 genes) DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel (29 genes) ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
NGS
Del Dup
Skeletal dysplasia core NGS panel (10 genes) ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
Del Dup
NGS
Skeletal dysplasia extended NGS panel (19 genes) ARSE, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel (47 genes) ACP5, B3GALT6, B3GAT3, BGN, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NKX3-2, PAM16, PAPSS2, PCYT1A, PTH1R, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Del Dup
NGS
Spondylocostal dysostosis NGS panel (6 genes) DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
NGS
Del Dup
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel (2 genes) B3GALT6, KIF22
NGS
Del Dup
Stickler syndrome core NGS panel (3 genes) COL11A1, COL11A2, COL2A1
Del Dup
NGS
Stickler syndrome NGS panel (7 genes) COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
Del Dup
NGS
Stickler syndrome NGS panel - Recessive (3 genes) COL9A1, COL9A2, COL9A3
Del Dup
NGS
Three M syndrome NGS panel (3 genes) CCDC8, CUL7, OBSL1
Del Dup
NGS
Thrombocytopenia NGS Panel (26 genes) ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SRC, TBXAS1, TUBB1, WAS, WIPF1
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel (6 genes) DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1
Del Dup
NGS
Van der Woude syndrome 1 / 2 (2 genes) GRHL3, IRF6
Sanger
Del Dup
Vascular malformations NGS panel (19 genes) ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Del Dup
NGS
Vitreoretinopathy NGS panel (19 genes) BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408
Del Dup
NGS
Waardenburg syndrome NGS panel (7 genes) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Del Dup
NGS
Weill-Marchesani syndrome NGS panel (4 genes) ADAMTS10, ADAMTS17, FBN1, LTBP2
Del Dup
NGS
Zimmermann-Laband syndrome 1 / 2 (2 genes) ATP6V1B2, KCNH1
Sanger
Del Dup

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