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 | |
| Achondrogenesis NGS panel (3 genes) | COL2A1, SLC26A2, TRIP11 | |
| Adams-Oliver syndrome NGS panel (6 genes) | ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | |
| Alagille syndrome NGS panel (3 genes) | ATP8B1, JAG1, NOTCH2 | |
| Alport syndrome NGS panel (4 genes) | COL4A3, COL4A4, COL4A5, COL4A6 | |
| 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 | |
| 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 | |
| Arterial calcification, generalized, of infancy NGS panel (2 genes) | ABCC6, ENPP1 | |
| Atrial fibrillation NGS panel (21 genes) | ABCC9, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5 | |
| Atrioventricular block NGS Panel (7 genes) | DES, EMD, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4 | |
| 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 | |
| Auriculocondylar syndrome NGS panel (3 genes) | EDN1, GNAI3, PLCB4 | |
| Axial spondylometaphyseal dysplasia NGS panel (2 genes) | C21orf2, NEK1 | |
| Basal cell nevus syndrome NGS panel (3 genes) | PTCH1, PTCH2, SUFU | |
| Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel (4 genes) | COL12A1, COL6A1, COL6A2, COL6A3 | |
| Blepharocheilodontic syndrome NGS panel (2 genes) | CDH1, CTNND1 | |
| Brittle cornea syndrome NGS panel (2 genes) | PRDM5, ZNF469 | |
| Brugada syndrome and related disorders NGS panel (25 genes) | ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4 | |
| Cantu syndrome NGS panel (2 genes) | ABCC9, KCNJ8 | |
| Cardiac channelopathy NGS panel (41 genes) | ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4 | |
| Catecholaminergic polymorphic ventricular tachycardia NGS panel (9 genes) | ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN | |
| Cerebral cavernous malformations NGS panel (3 genes) | CCM2, KRIT1, PDCD10 | |
| Cerebrooculofacioskeletal syndrome NGS panel (4 genes) | ERCC1, ERCC2, ERCC5, ERCC6 | |
| 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 | |
| Cholestasis NGS Panel (4 genes) | ABCB11, ABCB4, ATP8B1, TJP2 | |
| Chondrodysplasia punctata and related disorders NGS panel (10 genes) | AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7 | |
| Cleft lip, cleft palate and related disorders NGS panel (14 genes) | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, NECTIN1, SATB2, TBX22, TGDS, TP63 | |
| Cockayne syndrome NGS panel (2 genes) | ERCC6, ERCC8 | |
| Cole-Carpenter syndrome NGS panel (2 genes) | P4HB, SEC24D | |
| Congenital contracture syndrome extended NGS panel (31 genes) | ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 | |
| Congenital heart disease NGS panel (15 genes) | CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TBX1, TBX20, TBX5, ZIC3 | |
| Cornelia de Lange syndrome and related disorders NGS panel (8 genes) | AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3 | |
| Craniosynostosis core NGS panel (5 genes) | FGFR1, FGFR2, FGFR3, TCF12, TWIST1 | |
| 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 | |
| Cutis laxa NGS panel (9 genes) | ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 | |
| Dense bone dysplasia NGS panel (14 genes) | ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP | |
| Desbuquois dysplasia and related disorders NGS panel (11 genes) | B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1 | |
| Desbuquois dysplasia core NGS panel (4 genes) | CANT1, CSGALNACT1, IMPAD1, XYLT1 | |
| Diamond-Blackfan anemia NGS panel (18 genes) | GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2 | |
| Distal arthrogryposes NGS panel (10 genes) | ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2 | |
| 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 | |
| Distal Myopathy NGS panel (20 genes) | ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP | |
| Dyggve-Melchior-Clausen disease NGS panel (2 genes) | DYM, RAB33B | |
| Dyskeratosis congenita NGS panel (12 genes) | ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53 | |
| Ectodermal dysplasia NGS panel (10 genes) | EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1 | |
| Ectopia lentis NGS panel (2 genes) | ADAMTSL4, FBN1 | |
| Ehlers-Danlos syndrome core NGS panel (3 genes) | COL3A1, COL5A1, COL5A2 | |
| Ehlers-Danlos syndrome NGS panel - Dominant (9 genes) | C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA | |
| 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 | |
| Ehlers-Danlos syndrome NGS panel - Recessive (12 genes) | ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469 | |
| Ehlers-Danlos syndrome, classic type NGS panel (2 genes) | COL5A1, COL5A2 | |
| Ehlers-Danlos syndrome, periodontal type NGS panel (2 genes) | C1R, C1S | |
| Ehlers-Danlos syndrome, spondylodysplastic type NGS panel (3 genes) | B3GALT6, B4GALT7, SLC39A13 | |
| Ehlers-Danlos syndrome, type VIIA / VIIB (2 genes) | COL1A1, COL1A2 | |
| Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel (2 genes) | EVC, EVC2 | |
| Epidermolysis bullosa NGS panel (24 genes) | CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5 | |
| Erythrokeratodermias and related disorders NGS panel (7 genes) | DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR | |
| Exudative vitreoretinopathy NGS panel (7 genes) | CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408 | |
| FGFR1, FGFR2 and FGFR3 related craniosynostosis panel | FGFR1, FGFR2, FGFR3 | |
| FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel | FGFR1, FGFR2, FGFR3, TWIST1 | |
| Fibrillinopathy NGS panel (3 genes) | CBS, FBN1, FBN2 | |
| Fibrochondrogenesis NGS panel (2 genes) | COL11A1, COL11A2 | |
| Frontometaphyseal dysplasia NGS panel (3 genes) | FLNA, MAP3K7, TAB2 | |
| Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel (5 genes) | ALX1, ALX3, ALX4, EFNB1, SIX2 | |
| Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes) | GLMN, TEK | |
| Hereditary Hemorrhagic telangiectasia NGS panel (5 genes) | ACVRL1, ENG, GDF2, RASA1, SMAD4 | |
| Hyperphosphatemic familial tumoral calcinosis NGS panel (3 genes) | FGF23, GALNT3, KL | |
| Hypotrichosis NGS panel (11 genes) | APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE | |
| Ichthyosis NGS panel (32 genes) | ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5 | |
| Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel (2 genes) | IGF1, IGF1R | |
| 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 | |
| Kenny-Caffey syndrome NGS panel (2 genes) | FAM111A, TBCE | |
| Klippel-Feil syndrome NGS panel (5 genes) | GDF3, GDF6, MEOX1, MYO18B, RIPPLY2 | |
| Leber congenital amaurosis and related disorders NGS panel (32 genes) | AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1 | |
| Lethal congenital contracture syndrome and related disorders NGS Panel (22 genes) | ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 | |
| Limb girdle muscular dystrophy NGS panel (35 genes) | ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN | |
| Loeys-Dietz syndrome core NGS panel (2 genes) | TGFBR1, TGFBR2 | |
| Loeys-Dietz syndrome NGS panel (5 genes) | SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | |
| Long QT syndrome NGS panel (19 genes) | AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN | |
| Marfan syndrome and Loeys-Dietz syndrome core NGS panel (3 genes) | FBN1, TGFBR1, TGFBR2 | |
| Marfan syndrome and Loeys-Dietz syndrome NGS panel (6 genes) | FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | |
| Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel (27 genes) | ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | |
| Marfan syndrome, type I / II NGS panel (2 genes) | FBN1, TGFBR2 | |
| Meier-Gorlin syndrome NGS panel (8 genes) | CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6 | |
| Metaphyseal anadysplasia NGS panel (2 genes) | MMP13, MMP9 | |
| Microcephalic primordial dwarfism NGS panel (21 genes) | ATR, ATRIP, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4 | |
| Mucopolysaccharidosis NGS panel (14 genes) | ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH | |
| Multiple epiphyseal dysplasia (MED) NGS panel (8 genes) | CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2 | |
| Multiple exostoses NGS panel (2 genes) | EXT1, EXT2 | |
| Multiple pterygium syndrome, lethal type NGS panel (3 genes) | CHRNA1, CHRND, CHRNG | |
| Myofibrillar myopathy and related disorders NGS panel (11 genes) | ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1 | |
| Nephrolithiasis and related disorders NGS panel (31 genes) | ADCY10, AGXT, AP2S1, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, XDH | |
| 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 | |
| Neu-Laxova syndrome NGS panel (2 genes) | PHGDH, PSAT1 | |
| Neurofibromatosis and related disorders NGS panel (6 genes) | MLH1, MSH2, MSH6, NF1, NF2, SPRED1 | |
| Noonan spectrum disorder NGS panel (25 genes) | A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 | |
| Noonan syndrome core NGS panel (14 genes) | BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2 | |
| Oligodontia - Selective tooth agenesis NGS panel (9 genes) | AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B | |
| Omodysplasia NGS panel (2 genes) | FZD2, GPC6 | |
| Opitz GBBB syndrome NGS panel (2 genes) | MID1, SPECC1L | |
| Osteogenesis imperfecta COL1A1 & COL1A2 panel (2 genes) | COL1A1, COL1A2 | |
| Osteogenesis imperfecta core NGS panel (3 genes) | COL1A1, COL1A2, IFITM5 | |
| Osteogenesis imperfecta NGS panel - Dominant (7 genes) | ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3 | |
| Osteogenesis imperfecta NGS panel - Dominant & Recessive (25 genes) | ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1, XYLT2. | |
| Osteogenesis imperfecta NGS panel - Recessive (20 genes) | ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1, XYLT2 | |
| 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 | |
| Osteopetrosis core NGS panel (3 genes) | CLCN7, OSTM1, TCIRG1 | |
| Osteopetrosis NGS panel (14 genes) | AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11 | |
| Overgrowth syndrome NGS panel (7 genes) | EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA | |
| Paget disease of bone and related disorders NGS panel (7 genes) | HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687 | |
| Peeling skin syndrome NGS panel (7 genes) | CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5 | |
| Pfeiffer syndrome | FGFR1, FGFR2 | |
| 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 | |
| Polycystic kidney disease and related disorders NGS panel (21 genes) | ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, LRP5, MUC1, NOTCH2, NPHP3, OFD1, PKD1, PKD2, PKHD1, TMEM231, TSC1, TSC2, UMOD, ZNF423 | |
| Polycystic liver disease NGS panel (7 genes) | GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63 | |
| Porencephaly NGS panel (2 genes) | COL4A1, COL4A2 | |
| Progeroid syndromes and related disorders NGS panel (21 genes) | AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24 | |
| Progressive familial heart block type I NGS panel (2 genes) | SCN5A, TRPM4 | |
| Pseudoxanthoma elasticum NGS panel (2 genes) | ABCC6, GGCX | |
| Pulmonary hypertension NGS panel (9 genes) | ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9 | |
| Restrictive dermopathy, lethal NGS panel (2 genes) | LMNA, ZMPSTE24 | |
| Robinow syndrome NGS panel (6 genes) | DVL1, DVL3, FZD2, NXN, ROR2, WNT5A | |
| Rubinstein-Taybi syndrome NGS panel (2 genes) | CREBBP, EP300 | |
| Saethre-Chotzen syndrome | FGFR3, TWIST1 | |
| Short QT syndrome NGS panel (6 genes) | CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 | |
| Short stature with endocrinopathy NGS panel (14 genes) | BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3 | |
| Skeletal dysplasia ciliopathy NGS panel (24 genes) | C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60 | |
| 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 | |
| Skeletal dysplasia core NGS panel (10 genes) | ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11 | |
| 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 | |
| Smith-McCort dysplasia NGS panel (2 genes) | DYM, RAB33B | |
| Spondylo-Epi-Metaphyseal dysplasias NGS panel (54 genes) | ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1, NKX3-2, NPR2, PAM16, PAPSS2, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1 | |
| Spondylocostal dysostosis NGS panel (6 genes) | DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6 | |
| Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel (2 genes) | B3GALT6, KIF22 | |
| Stickler syndrome core NGS panel (3 genes) | COL11A1, COL11A2, COL2A1 | |
| Stickler syndrome NGS panel (8 genes) | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN | |
| Stickler syndrome NGS panel - Recessive (3 genes) | COL9A1, COL9A2, COL9A3 | |
| Three M syndrome NGS panel (3 genes) | CCDC8, CUL7, OBSL1 | |
| 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 | |
| Treacher Collins syndrome and related disorders NGS panel (8 genes) | DHODH, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A | |
| Treacher Collins syndrome core NGS panel (3 genes) | POLR1C, POLR1D, TCOF1 | |
| Trichothiodystrophy NGS panel (6 genes) | ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A | |
| Tuberous sclerosis NGS panel (2 genes) | TSC1, TSC2 | |
| Van der Woude syndrome NGS panel (2 genes) | GRHL3, IRF6 | |
| 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 | |
| Vitreoretinopathy NGS panel (19 genes) | BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408 | |
| Waardenburg syndrome NGS panel (7 genes) | EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR | |
| Weaver and Cohen-Gibson syndrome NGS panel (2 genes) | EED, EZH2 | |
| Weill-Marchesani syndrome NGS panel (4 genes) | ADAMTS10, ADAMTS17, FBN1, LTBP2 | |
| Xeroderma pigmentosum NGS panel (9 genes) | DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC | |
| Zimmermann-Laband syndrome NGS panel (2 genes) | ATP6V1B2, KCNH1 |