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
Del Dup
NGS
Alport syndrome NGS panel (4 genes) COL4A3, COL4A4, COL4A5, COL4A6
NGS
Del Dup
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
NGS
Del Dup
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
NGS
Del Dup
Arterial calcification, generalized, of infancy NGS panel (2 genes) ABCC6, ENPP1
Del Dup
NGS
Atrial fibrillation NGS panel (22 genes) ABCC9, GATA6, GJA5, GLA, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5
NGS
Del Dup
Atrioventricular block NGS Panel (9 genes) DES, EMD, GAA, GLA, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4
NGS
Del Dup
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
Auriculocondylar syndrome NGS panel (3 genes) EDN1, GNAI3, PLCB4
Del Dup
NGS
Axial spondylometaphyseal dysplasia NGS panel (2 genes) C21orf2, NEK1
Del Dup
NGS
Bartter syndrome and related disorders NGS panel (9 genes) BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
Del Dup
NGS
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
Blepharocheilodontic syndrome NGS panel (2 genes) CDH1, CTNND1
Del Dup
NGS
Brittle cornea syndrome NGS panel (2 genes) PRDM5, ZNF469
Del Dup
NGS
Brugada syndrome and related disorders NGS panel (27 genes) ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GAA, GLA, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4
NGS
Del Dup
CADASIL NGS panel (2 genes) HTRA1, NOTCH3
Del Dup
NGS
Cantu syndrome NGS panel (2 genes) ABCC9, KCNJ8
NGS
Del Dup
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
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel (9 genes) ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
NGS
Del Dup
Cerebral cavernous malformations NGS panel (3 genes) CCM2, KRIT1, PDCD10
NGS
Del Dup
Cerebral small vessel disease NGS panel (7 genes) COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
Del Dup
NGS
Cerebrooculofacioskeletal syndrome NGS panel (4 genes) ERCC1, ERCC2, ERCC5, ERCC6
Del Dup
NGS
Charcot-Marie-Tooth disease NGS panel (43 genes) AARS, AIFM1, ATP1A1, 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
NGS
Del Dup
Chondrodysplasia punctata and related disorders NGS panel (10 genes) AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
NGS
Del Dup
Cleft lip, cleft palate and related disorders NGS panel (17 genes) BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, MSX1, NECTIN1, SATB2, SUMO1, TBX22, TGDS, TP63
Del Dup
NGS
Cockayne syndrome NGS panel (2 genes) ERCC6, ERCC8
NGS
Del Dup
Cole-Carpenter syndrome NGS panel (2 genes) P4HB, SEC24D
Del Dup
NGS
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
NGS
Del Dup
Congenital heart disease NGS panel (16 genes) CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3
Del Dup
NGS
Cornelia de Lange syndrome and related disorders NGS panel (8 genes) AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3
NGS
Del Dup
Craniosynostosis core NGS panel (5 genes) FGFR1, FGFR2, FGFR3, TCF12, TWIST1
Del Dup
NGS
Craniosynostosis NGS panel (26 genes) CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1
NGS
Del Dup
Cutis laxa NGS panel (9 genes) ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, 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 (11 genes) B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Desbuquois dysplasia core NGS panel (4 genes) CANT1, CSGALNACT1, IMPAD1, XYLT1
Del Dup
NGS
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
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 NGS panel (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
Dyggve-Melchior-Clausen disease NGS panel (2 genes) DYM, RAB33B
Del Dup
NGS
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 (10 genes) EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, 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, COL1A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469
NGS
Del Dup
Ehlers-Danlos syndrome, arthrochalasia type NGS panel (2 genes) COL1A1, COL1A2
Del Dup
NGS
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
NGS
Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel (3 genes) B3GALT6, B4GALT7, SLC39A13
NGS
Del Dup
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel (2 genes) EVC, EVC2
Del Dup
NGS
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
NGS
Del Dup
Erythrokeratodermias and related disorders NGS panel (7 genes) DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR
Del Dup
NGS
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
Del Dup
NGS
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel (5 genes) ALX1, ALX3, ALX4, EFNB1, SIX2
Del Dup
NGS
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
Hyperuricemic nephropathy, familial juvenile NGS panel (3 genes) REN, SEC61A1, UMOD
Del Dup
NGS
Hypotrichosis NGS panel (11 genes) APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
Del Dup
NGS
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
Del Dup
NGS
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel (2 genes) IGF1, IGF1R
Del Dup
NGS
Joubert syndrome and related disorders NGS panel (37 genes) AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, C5orf42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
NGS
Del Dup
Kabuki syndrome NGS panel (5 genes) HNRNPK, KDM6A, KMT2D, RAB1B, RAP1A
NGS
Del Dup
Kenny-Caffey syndrome NGS panel (2 genes) FAM111A, TBCE
NGS
Del Dup
Keratoconus and related disorders NGS panel (4 genes) MIR184, PRDM5, VSX1, ZNF469
Del Dup
NGS
Klippel-Feil syndrome NGS panel (5 genes) GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
Del Dup
NGS
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
Del Dup
NGS
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
Del Dup
NGS
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
Del Dup
NGS
Lissencephaly and related disorders NGS panel (42 genes) ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62
NGS
Del Dup
Lissencephaly core NGS panel (10 genes) ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
NGS
Del Dup
Loeys-Dietz syndrome core NGS panel (2 genes) TGFBR1, TGFBR2
Del Dup
NGS
Loeys-Dietz syndrome NGS panel (5 genes) SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
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
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel (3 genes) FBN1, 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 (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
NGS
Del Dup
Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
Del Dup
NGS
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel (3 genes) AKT3, CCND2, PIK3R2
NGS
Del Dup
Meier-Gorlin syndrome NGS panel (8 genes) CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6
NGS
Del Dup
Metaphyseal anadysplasia NGS panel (2 genes) MMP13, MMP9
Del Dup
NGS
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
NGS
Del Dup
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 (8 genes) CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
NGS
Del Dup
Multiple exostoses NGS panel (2 genes) EXT1, EXT2
Del Dup
NGS
Multiple pterygium syndrome, lethal type NGS panel (3 genes) CHRNA1, CHRND, CHRNG
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel (11 genes) ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Del Dup
NGS
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
NGS
Del Dup
Nephronophthisis and related disorders NGS panel (29 genes) AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel (42 genes) ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, LMX1B, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, TTC21B, WDR73, WT1
NGS
Del Dup
Neu-Laxova syndrome NGS panel (2 genes) PHGDH, PSAT1
Del Dup
NGS
Neurofibromatosis and related disorders NGS panel (6 genes) MLH1, MSH2, MSH6, NF1, NF2, SPRED1
Del Dup
NGS
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
Del Dup
NGS
Noonan syndrome core NGS panel (14 genes) BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
NGS
Del Dup
Oligodontia - Selective tooth agenesis NGS panel (9 genes) AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
Del Dup
NGS
Omodysplasia NGS panel (2 genes) FZD2, GPC6
Del Dup
NGS
Opitz GBBB syndrome NGS panel (2 genes) MID1, SPECC1L
Del Dup
NGS
Osteogenesis imperfecta COL1A1 & COL1A2 NGS 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 (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
NGS
Del Dup
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
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
Overgrowth syndrome NGS panel (11 genes) DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, NSD1, OFD1, PDGFRB, PIGA, SETD2
NGS
Del Dup
Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Peeling skin syndrome NGS panel (7 genes) CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5
Del Dup
NGS
Pfeiffer syndrome FGFR1, FGFR2
Sanger
Platelet bleeding disorders NGS panel (34 genes) ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Del Dup
NGS
Polycystic kidney disease and related disorders NGS panel (22 genes) ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, LRP5, MUC1, NOTCH2, NPHP3, OFD1, PKD1, PKD2, PKHD1, SEC61A1, TMEM231, TSC1, TSC2, UMOD, ZNF423
Del Dup
NGS
Polycystic liver disease NGS panel (7 genes) GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63
NGS
Del Dup
Popliteal pterygium syndrome NGS panel (2 genes) IRF6, RIPK4
Del Dup
NGS
Porencephaly NGS panel (2 genes) COL4A1, COL4A2
Del Dup
NGS
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
NGS
Del Dup
Progressive familial heart block type I NGS panel (2 genes) SCN5A, TRPM4
Del Dup
NGS
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
NGS
Del Dup
Renal tubular dysgenesis NGS panel (4 genes) ACE, AGT, AGTR1, REN
Del Dup
NGS
Restrictive dermopathy, lethal NGS panel (2 genes) LMNA, ZMPSTE24
Del Dup
NGS
Robinow syndrome NGS panel (6 genes) DVL1, DVL3, FZD2, NXN, 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
NGS
Short QT syndrome NGS panel (6 genes) CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
Del Dup
NGS
Short stature with endocrinopathy NGS panel (14 genes) BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3
NGS
Del Dup
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
Del Dup
NGS
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
Smith-McCort dysplasia NGS panel (2 genes) DYM, RAB33B
Del Dup
NGS
Sotos syndrome and related disorders NGS panel (4 genes) APC2, EZH2, NFIX, NSD1
Del Dup
NGS
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
NGS
Del Dup
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
Del Dup
NGS
Stickler syndrome core NGS panel (3 genes) COL11A1, COL11A2, COL2A1
Del Dup
NGS
Stickler syndrome NGS panel (8 genes) COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, VCAN
NGS
Del Dup
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 (28 genes) ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, GBA, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SMPD1, SRC, TBXAS1, TUBB1, WAS, WIPF1
NGS
Del Dup
Treacher Collins syndrome and related disorders NGS panel (9 genes) DHODH, EDNRA, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A
Del Dup
NGS
Treacher Collins syndrome core NGS panel (3 genes) POLR1C, POLR1D, TCOF1
Del Dup
NGS
Trichothiodystrophy NGS panel (6 genes) ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A
NGS
Del Dup
Tuberous sclerosis NGS panel (2 genes) TSC1, TSC2
Del Dup
NGS
Van der Woude syndrome NGS panel (2 genes) GRHL3, IRF6
Del Dup
NGS
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
NGS
Del Dup
Vitreoretinopathy NGS panel (19 genes) BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408
NGS
Del Dup
Waardenburg syndrome NGS panel (7 genes) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel (2 genes) EED, EZH2
Del Dup
NGS
Weill-Marchesani syndrome NGS panel (4 genes) ADAMTS10, ADAMTS17, FBN1, LTBP2
Del Dup
NGS
Xeroderma pigmentosum NGS panel (9 genes) DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
NGS
Del Dup
Zimmermann-Laband syndrome NGS panel (2 genes) ATP6V1B2, KCNH1
NGS
Del Dup

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