Browse CTGT's test catalogue by NGS Panel.

Abnormal mineralization disorders NGS panel (15 genes) ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
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NGS
Achondrogenesis NGS panel (3 genes) COL2A1, SLC26A2, TRIP11
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NGS
Achondrogenesis, type IA TRIP11
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NGS
Achondrogenesis, type II / Hypochondrogenesis COL2A1
Del Dup
NGS
Achondroplasia / Hypochondroplasia FGFR3
Del Dup
NGS
Adams-Oliver Syndrome 1 ARHGAP31
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NGS
Adams-Oliver syndrome 2 DOCK6
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NGS
Adams-Oliver syndrome 3 RBPJ
NGS
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Adams-Oliver syndrome 4 EOGT
NGS
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Adams-Oliver syndrome 5 NOTCH1
NGS
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Adams-Oliver syndrome NGS panel (6 genes) ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
NGS
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Alagille syndrome 1 JAG1
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NGS
Alagille syndrome 2 NOTCH2
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NGS
Alagille syndrome NGS panel (3 genes) ATP8B1, JAG1, NOTCH2
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NGS
Alagille syndrome, ATP8B1 related ATP8B1
NGS
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Alport syndrome NGS panel (4 genes) COL4A3, COL4A4, COL4A5, COL4A6
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NGS
Alport syndrome, X-linked COL4A5
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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
NGS
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Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
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NGS
Aortic aneurysm, familial thoracic 4 MYH11
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NGS
Aortic aneurysm, familial thoracic 7 MYLK
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
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NGS
Aortic valve disease 1 NOTCH1
NGS
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Arterial calcification, generalized, of infancy NGS panel (2 genes) ABCC6, ENPP1
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NGS
Arterial calcification, generalized, of infancy, 1 ENPP1
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NGS
Arterial calcification, generalized, of infancy, 2 ABCC6
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NGS
Atelosteogenesis, type I / III FLNB
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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
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NGS
Avascular necrosis of femoral head, primary COL2A1
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NGS
Basal cell nevus syndrome - PTCH1 PTCH1
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NGS
Basal cell nevus syndrome - PTCH2 PTCH2
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NGS
Basal cell nevus syndrome NGS panel (3 genes) PTCH1, PTCH2, SUFU
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NGS
Bent bone dysplasia syndrome FGFR2
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NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL6A1, COL6A2, COL6A3
NGS
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Boomerang dysplasia FLNB
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NGS
Brain small vessel disease with or without ocular anomalies COL4A1
NGS
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Bruck syndrome 2 PLOD2
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NGS
Buschke-Ollendorff syndrome LEMD3
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NGS
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
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NGS
Camurati-Engelmann disease TGFB1
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NGS
Cantu syndrome ABCC9
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NGS
Cantu syndrome NGS panel (2 genes) ABCC9, KCNJ8
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NGS
Capillary malformation arteriovenous malformation RASA1
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NGS
Cardiac valvular dysplasia, X-linked FLNA
NGS
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy NOTCH3
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NGS
Cerebral cavernous malformations NGS panel (3 genes) CCM2, KRIT1, PDCD10
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NGS
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
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CHARGE syndrome CHD7
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NGS
Cholestasis NGS Panel (4 genes) ABCB11, ABCB4, ATP8B1, TJP2
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NGS
Cholestasis, benign recurrent intrahepatic, 1 ATP8B1
NGS
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Cholestasis, benign recurrent intrahepatic, 2 ABCB11
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NGS
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
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NGS
Cholestasis, intrahepatic, of pregnancy, 3 ABCB4
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NGS
Cholestasis, progressive familial intrahepatic, 1 ATP8B1
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NGS
Cholestasis, progressive familial intrahepatic, 2 ABCB11
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NGS
Cholestasis, progressive familial intrahepatic, 3 ABCB4
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NGS
Cholestasis, progressive familial intrahepatic, 4 TJP2
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NGS
Chondrocalcinosis 2 ANKH
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NGS
Chondrodysplasia punctata and related disorders NGS panel (10 genes) AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
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NGS
Chondrodysplasia, Blomstrand type PTH1R
NGS
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Cole-Carpenter syndrome 2 SEC24D
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NGS
Cole-Carpenter syndrome NGS panel (2 genes) P4HB, SEC24D
NGS
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Congenital contractural arachnodactyly FBN2
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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
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NGS
Cornelia de Lange syndrome 1 NIPBL
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NGS
Cornelia de Lange syndrome NGS panel (5 genes) HDAC8, NIPBL, RAD21, SMC1A, SMC3
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NGS
Cranioectodermal dysplasia 2 WDR35
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NGS
Cranioectodermal dysplasia 4 WDR19
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NGS
Craniometaphyseal dysplasia, autosomal dominant ANKH
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NGS
Craniosynostosis core NGS panel (5 genes) FGFR1, FGFR2, FGFR3, TCF12, TWIST1
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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
NGS
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Cutaneomucosal venous malformations TEK
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NGS
Cutis laxa NGS panel (7 genes) ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
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NGS
Cutis laxa, autosomal dominant 1 ELN
NGS
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Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA FBLN5
NGS
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Cutis laxa, autosomal recessive IC LTBP4
NGS
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Cutis laxa, autosomal recessive IIA ATP6V0A2
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NGS
Cutis laxa, autosomal recessive IIIA ALDH18A1
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NGS
Czech dysplasia COL2A1
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NGS
Dense bone dysplasia NGS panel (14 genes) ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
NGS
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Desbuquois dysplasia 2 XYLT1
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NGS
Desbuquois dysplasia and related disorders NGS panel (10 genes) B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, IMPAD1, KIF22, SLC26A2, XYLT1
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NGS
Desbuquois dysplasia core NGS panel (4 genes) CANT1, CSGALNACT1, IMPAD1, XYLT1
NGS
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Distal arthrogryposes NGS panel (10 genes) ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
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NGS
Distal hereditary motor neuropathy and related disorders NGS panel (22 genes) ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SLC5A7, TRPV4
NGS
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Dyggve-Melchior-Clausen disease DYM
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NGS
Dyskeratosis congenita NGS panel (12 genes) ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
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NGS
Dyssegmental dysplasia, Silverman-Handmaker type HSPG2
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NGS
Ectodermal dysplasia NGS panel (8 genes) EDA, EDAR, EDARADD, GJB6, HOXC13, KRT74, KRT85, MSX1
NGS
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Ectopia lentis NGS panel (2 genes) ADAMTSL4, FBN1
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NGS
Ectopia lentis, isolated, autosomal dominant FBN1
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NGS
Ectopia lentis, isolated, autosomal recessive ADAMTSL4
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NGS
Ehlers-Danlos syndrome core NGS panel (3 genes) COL3A1, COL5A1, COL5A2
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NGS
Ehlers-Danlos syndrome NGS panel - Dominant (6 genes) COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
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NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive (13 genes) ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, SLC39A13
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NGS
Ehlers-Danlos syndrome NGS panel - Recessive (7 genes) ADAMTS2, ATP7A, CHST14, DSE, FKBP14, PLOD1, SLC39A13
NGS
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Ehlers-Danlos syndrome, classic type NGS panel (2 genes) COL5A1, COL5A2
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NGS
Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
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NGS
Ehlers-Danlos syndrome, type I / II - (COL5A1) COL5A1
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NGS
Ehlers-Danlos syndrome, type I / II - (COL5A2) COL5A2
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NGS
Ehlers-Danlos syndrome, type IV COL3A1
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NGS
Ehlers-Danlos syndrome, type VI PLOD1
Del Dup
NGS
Eiken syndrome PTH1R
NGS
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Ellis-van Creveld syndrome NGS Panel (2 genes) EVC, EVC2
NGS
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Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
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NGS
Epidermolysis bullosa NGS panel (18 genes) COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
NGS
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Exudative vitreoretinopathy 4 LRP5
NGS
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Exudative vitreoretinopathy NGS panel (7 genes) CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
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NGS
Failure of tooth eruption, primary PTH1R
NGS
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FGFR2 related craniosynostosis FGFR2
NGS
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Fibrillinopathy NGS panel (3 genes) CBS, FBN1, FBN2
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NGS
Fibrochondrogenesis 1 COL11A1
NGS
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Fibrochondrogenesis 2 COL11A2
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NGS
Fibrochondrogenesis NGS panel (2 genes) COL11A1, COL11A2
NGS
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Frontometaphyseal dysplasia FLNA
NGS
Frontometaphyseal dysplasia NGS panel (3 genes) FLNA, MAP3K7, TAB2
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NGS
Glomuvenous malformations GLMN
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NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes) GLMN, TEK
NGS
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Greig cephalopolysyndactyly syndrome GLI3
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NGS
Hajdu-Cheney syndrome NOTCH2
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NGS
Hereditary Hemorrhagic telangiectasia NGS panel (5 genes) ACVRL1, ENG, GDF2, RASA1, SMAD4
NGS
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Hereditary hemorrhagic telangiectasia type 1 ENG
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NGS
Homocystinuria CBS
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NGS
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
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NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel (3 genes) FGF23, GALNT3, KL
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NGS
Ichthyosis NGS panel - Nonsyndromic (19 genes) ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, STS, TGM1
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NGS
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
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NGS
Klippel-Feil syndrome NGS panel (5 genes) GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
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NGS
Kniest dysplasia COL2A1
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NGS
Knobloch syndrome 1 COL18A1
NGS
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Larsen syndrome, autosomal dominant FLNB
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NGS
Lateral meningocele syndrome NOTCH3
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NGS
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
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NGS
Loeys-Dietz syndrome NGS panel (5 genes) SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
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NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
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NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel (6 genes) FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
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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
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NGS
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 FBN1
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NGS
Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
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NGS
Marshall syndrome COL11A1
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NGS
Meier-Gorlin syndrome 1 ORC1
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NGS
Meier-Gorlin syndrome NGS panel (7 genes) CDC45, CDC6, CDT1, GMNN, ORC1, ORC4, ORC6
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NGS
Melnick-Needles syndrome FLNA
NGS
Menkes disease ATP7A
NGS
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Metaphyseal anadysplasia NGS panel (2 genes) MMP13, MMP9
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NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
NGS
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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
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NGS
Mitral valve prolapse 2 DCHS1
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NGS
Multiple epiphyseal dysplasia COMP
NGS
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Multiple epiphyseal dysplasia (MED) NGS panel (7 genes) COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
NGS
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Myofibrillar myopathy and related disorders NGS panel (8 genes) BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
NGS
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Nail-patella syndrome LMX1B
NGS
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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
NGS
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Neurofibromatosis and related disorders NGS panel (6 genes) MLH1, MSH2, MSH6, NF1, NF2, SPRED1
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NGS
Neurofibromatosis type I NF1
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NGS
Next Generation Sequencing (Any of the NGS panel Genes)
NGS
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
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NGS
Occipital horn syndrome ATP7A
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NGS
Oligodontia - Selective tooth agenesis NGS panel (9 genes) AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
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NGS
Orofaciodigital syndrome I OFD1
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NGS
Osteoarthritis with mild chondrodysplasia COL2A1
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NGS
Osteogenesis imperfecta COL1A1 & COL1A2 panel (2 genes) COL1A1, COL1A2
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NGS
Osteogenesis imperfecta core NGS panel (3 genes) COL1A1, COL1A2, IFITM5
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NGS
Osteogenesis imperfecta NGS panel - Dominant (7 genes) ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
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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
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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
NGS
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Osteogenesis imperfecta, PLS3 related PLS3
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NGS
Osteogenesis imperfecta, type XIII BMP1
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NGS
Osteogenesis imperfecta, types I, II, III & IV COL1A1
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NGS
Osteogenesis imperfecta, types I, II, III & IV COL1A2
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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
Del Dup
NGS
Osteopetrosis core NGS panel (3 genes) CLCN7, OSTM1, TCIRG1
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NGS
Osteopetrosis NGS panel (14 genes) AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
Osteopetrosis with renal tubular acidosis 3 CA2
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NGS
Osteopetrosis, autosomal dominant 1 LRP5
Del Dup
NGS
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 CLCN7
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NGS
Osteopetrosis, autosomal recessive 1 TCIRG1
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NGS
Osteopetrosis, autosomal recessive 2 TNFSF11
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NGS
Osteopetrosis, autosomal recessive 6 PLEKHM1
NGS
Osteoporosis-pseudoglioma syndrome LRP5
Del Dup
NGS
Otopalatodigital syndrome, type I / II FLNA
NGS
Otospondylomegaepiphyseal dysplasia COL11A2
NGS
Del Dup
Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Pallister-Hall syndrome GLI3
NGS
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Parkes Weber syndrome RASA1
NGS
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Periventricular nodular heterotopia 1, FLNA
NGS
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
Platyspondylic lethal skeletal dysplasia, Torrance type COL2A1
NGS
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Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Porencephaly 1 COL4A1
NGS
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Porencephaly 2 COL4A2
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NGS
Porencephaly NGS panel (2 genes) COL4A1, COL4A2
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NGS
Pseudoachondroplasia COMP
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NGS
Pseudoxanthoma elasticum ABCC6
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NGS
Pseudoxanthoma elasticum NGS panel (2 genes) ABCC6, GGCX
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NGS
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
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NGS
Pulmonary hypertension NGS panel (9 genes) ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9
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NGS
Pulmonary hypertension, primary, 1 BMPR2
NGS
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Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
NGS
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Pulmonary venoocclusive disease 2, autosomal recessive EIF2AK4
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
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NGS
Rickets, hypophosphatemic, autosomal recessive, 2 ENPP1
Del Dup
NGS
Rickets, hypophosphatemic, X-linked dominant PHEX
Del Dup
NGS
Rickets, vitamin D-dependent type I CYP27B1
Del Dup
NGS
Robinow syndrome NGS panel (4 genes) DVL1, DVL3, ROR2, WNT5A
Del Dup
NGS
Rubinstein-Taybi syndrome 1 CREBBP
NGS
Del Dup
Rubinstein-Taybi syndrome 2 EP300
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel (2 genes) CREBBP, EP300
Del Dup
NGS
Schwartz-Jampel syndrome, type 1 HSPG2
Del Dup
NGS
Serpentine fibula-polycystic kidney syndrome NOTCH2
Del Dup
NGS
Short-rib thoracic dysplasia 2 with or without polydactyly IFT80
Del Dup
NGS
Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1
Del Dup
NGS
Short-rib thoracic dysplasia 4 with or without polydactyly TTC21B
Del Dup
NGS
Short-rib thoracic dysplasia 5 with or without polydactyly WDR19
Del Dup
NGS
Short-rib thoracic dysplasia 6 with or without polydactyly NEK1
Del Dup
NGS
Short-rib thoracic dysplasia 7 with or without polydactyly WDR35
NGS
Del Dup
Short-rib thoracic dysplasia 8 with or without polydactyly WDR60
NGS
Del Dup
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel (6 genes) EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
NGS
Del Dup
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
Del Dup
NGS
Skeletal dysplasia core NGS panel (10 genes) ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
NGS
Del Dup
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 DYM
NGS
Del Dup
Sotos syndrome 1 NSD1
NGS
Del Dup
Spinal muscular atrophy, distal, X-linked 3 ATP7A
NGS
Del Dup
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
NGS
Del Dup
Spondylocarpotarsal synostosis syndrome FLNB
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
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
NGS
Del Dup
Spondyloepimetaphyseal dysplasia, Strudwick type COL2A1
Del Dup
NGS
Spondyloepiphyseal dysplasia congenita COL2A1
Del Dup
NGS
Spondyloperipheral dysplasia COL2A1
Del Dup
NGS
Steel syndrome COL27A1
Del Dup
NGS
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
NGS
Del Dup
Stickler syndrome NGS panel - Recessive (3 genes) COL9A1, COL9A2, COL9A3
Del Dup
NGS
Stickler syndrome, type I COL2A1
Del Dup
NGS
Stickler syndrome, type II COL11A1
Del Dup
NGS
Stickler syndrome, type III COL11A2
Del Dup
NGS
Stuve-Wiedemann syndrome LIFR
Del Dup
NGS
Supravalvular aortic stenosis ELN
Del Dup
NGS
Terminal osseous dysplasia FLNA
NGS
Thanatophoric dysplasia, type I / II FGFR3
Del Dup
NGS
Three M syndrome 1 CUL7
NGS
Del Dup
Three M syndrome 2 OBSL1
NGS
Del Dup
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 1 TCOF1
NGS
Del Dup
Treacher Collins syndrome and related disorders NGS panel (6 genes) DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1
Del Dup
NGS
Van Buchem disease, type 2 LRP5
NGS
Del Dup
Van Maldergem syndrome 1 DCHS1
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
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
Wagner vitreoretinopathy VCAN
NGS
Del Dup
Weaver syndrome EZH2
NGS
Del Dup
Weill-Marchesani syndrome 1 ADAMTS10
NGS
Del Dup
Weill-Marchesani syndrome 2 FBN1
NGS
Del Dup
Weill-Marchesani syndrome 3 LTBP2
Del Dup
NGS
Weill-Marchesani syndrome NGS panel (4 genes) ADAMTS10, ADAMTS17, FBN1, LTBP2
Del Dup
NGS
Weill-Marchesani-like syndrome ADAMTS17
Del Dup
NGS
Weissenbacher-Zweymuller syndrome COL11A2
Del Dup
NGS
Wilson disease ATP7B
Del Dup
NGS
Wolcott-Rallison syndrome EIF2AK3
Del Dup
NGS

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