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
NGS
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Achondrogenesis NGS panel (3 genes) COL2A1, SLC26A2, TRIP11
NGS
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Achondrogenesis, type IA TRIP11
Del Dup
NGS
Achondrogenesis, type II / Hypochondrogenesis COL2A1
Del Dup
NGS
Achondroplasia / Hypochondroplasia FGFR3
NGS
Del Dup
Adams-Oliver Syndrome 1 ARHGAP31
NGS
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Adams-Oliver syndrome 2 DOCK6
NGS
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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
NGS
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Alagille syndrome 2 NOTCH2
NGS
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Alagille syndrome NGS panel (3 genes) ATP8B1, JAG1, NOTCH2
NGS
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Alagille syndrome, ATP8B1 related ATP8B1
Del Dup
NGS
Alport syndrome NGS panel (4 genes) COL4A3, COL4A4, COL4A5, COL4A6
NGS
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Alport syndrome, X-linked COL4A5
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
NGS
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Aortic aneurysm, familial thoracic 7 MYLK
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
NGS
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Aortic valve disease 1 NOTCH1
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NGS
Arterial calcification, generalized, of infancy NGS panel (2 genes) ABCC6, ENPP1
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NGS
Arterial calcification, generalized, of infancy, 1 ENPP1
NGS
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Arterial calcification, generalized, of infancy, 2 ABCC6
NGS
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Atelosteogenesis, type I / III FLNB
NGS
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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
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Avascular necrosis of femoral head, primary COL2A1
NGS
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Basal cell nevus syndrome - PTCH1 PTCH1
NGS
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Basal cell nevus syndrome - PTCH2 PTCH2
NGS
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Basal cell nevus syndrome NGS panel (3 genes) PTCH1, PTCH2, SUFU
NGS
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Bent bone dysplasia syndrome FGFR2
NGS
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Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL6A1, COL6A2, COL6A3
NGS
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Boomerang dysplasia FLNB
NGS
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Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Bruck syndrome 2 PLOD2
NGS
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Buschke-Ollendorff syndrome LEMD3
NGS
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Camptodactyly, tall stature, and hearing loss syndrome FGFR3
NGS
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Camurati-Engelmann disease TGFB1
NGS
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Cantu syndrome ABCC9
NGS
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Cantu syndrome NGS panel (2 genes) ABCC9, KCNJ8
NGS
Del Dup
Capillary malformation arteriovenous malformation RASA1
NGS
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Cardiac valvular dysplasia, X-linked FLNA
NGS
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy NOTCH3
NGS
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Cerebral cavernous malformations NGS panel (3 genes) CCM2, KRIT1, PDCD10
Del Dup
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
Del Dup
NGS
CHARGE syndrome CHD7
NGS
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Cholestasis NGS Panel (4 genes) ABCB11, ABCB4, ATP8B1, TJP2
NGS
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Cholestasis, benign recurrent intrahepatic, 1 ATP8B1
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NGS
Cholestasis, benign recurrent intrahepatic, 2 ABCB11
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NGS
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
NGS
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Cholestasis, intrahepatic, of pregnancy, 3 ABCB4
NGS
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Cholestasis, progressive familial intrahepatic, 1 ATP8B1
NGS
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Cholestasis, progressive familial intrahepatic, 2 ABCB11
NGS
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Cholestasis, progressive familial intrahepatic, 3 ABCB4
NGS
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Cholestasis, progressive familial intrahepatic, 4 TJP2
NGS
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Chondrocalcinosis 2 ANKH
NGS
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Chondrodysplasia punctata and related disorders NGS panel (8 genes) AGPS, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX7
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NGS
Chondrodysplasia, Blomstrand type PTH1R
NGS
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Cole-Carpenter syndrome 2 SEC24D
NGS
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Cole-Carpenter syndrome NGS panel (2 genes) P4HB, SEC24D
NGS
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Congenital contractural arachnodactyly FBN2
NGS
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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
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Cornelia de Lange syndrome 1 NIPBL
NGS
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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
NGS
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Craniometaphyseal dysplasia, autosomal dominant ANKH
NGS
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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
NGS
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Cutis laxa NGS panel (7 genes) ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
NGS
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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
NGS
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Cutis laxa, autosomal recessive IIIA ALDH18A1
NGS
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Czech dysplasia COL2A1
NGS
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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
NGS
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Desbuquois dysplasia NGS panel (2 genes) CANT1, XYLT1
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NGS
Distal arthrogryposes NGS panel (10 genes) ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
NGS
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Dyggve-Melchior-Clausen disease DYM
NGS
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Dyssegmental dysplasia, Silverman-Handmaker type HSPG2
NGS
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Ectopia lentis NGS panel (2 genes) ADAMTSL4, FBN1
NGS
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Ectopia lentis, isolated, autosomal dominant FBN1
NGS
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Ectopia lentis, isolated, autosomal recessive ADAMTSL4
NGS
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Ehlers-Danlos syndrome NGS panel - Dominant (6 genes) COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
NGS
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Ehlers-Danlos syndrome NGS panel - Dominant & Recessive (12 genes) ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
NGS
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Ehlers-Danlos syndrome NGS panel - Recessive (6 genes) ADAMTS2, ATP7A, CHST14, FKBP14, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, classic type NGS panel (2 genes) COL5A1, COL5A2
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NGS
Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
NGS
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Ehlers-Danlos syndrome, type I / II - (COL5A1) COL5A1
NGS
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Ehlers-Danlos syndrome, type I / II - (COL5A2) COL5A2
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NGS
Ehlers-Danlos syndrome, type IV COL3A1
NGS
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Ehlers-Danlos syndrome, type VI PLOD1
NGS
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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
NGS
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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 (6 genes) CAPN5, FZD4, LRP5, NDP, TSPAN12, ZNF408
NGS
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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
NGS
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Fibrochondrogenesis NGS panel (2 genes) COL11A1, COL11A2
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NGS
Frontometaphyseal dysplasia FLNA
NGS
Glomuvenous malformations GLMN
NGS
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Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes) GLMN, TEK
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NGS
Greig cephalopolysyndactyly syndrome GLI3
Del Dup
NGS
Hajdu-Cheney syndrome NOTCH2
Del Dup
NGS
Hereditary Hemorrhagic telangiectasia NGS panel (5 genes) ACVRL1, ENG, GDF2, RASA1, SMAD4
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NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
Del Dup
NGS
Homocystinuria CBS
Del Dup
NGS
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
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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 (29 genes) AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
NGS
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Klippel-Feil syndrome NGS panel (5 genes) GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
NGS
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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
NGS
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Loeys-Dietz syndrome NGS panel (5 genes) SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
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Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
NGS
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Marfan syndrome and Loeys-Dietz syndrome 1 / 2 NGS panel (3 genes) FBN1, 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
NGS
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Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
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NGS
Marshall syndrome COL11A1
NGS
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Meier-Gorlin syndrome 1 ORC1
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NGS
Meier-Gorlin syndrome NGS panel (7 genes) CDC45, CDC6, CDT1, GMNN, ORC1, ORC4, ORC6
Del Dup
NGS
Melnick-Needles syndrome FLNA
NGS
Menkes disease ATP7A
Del Dup
NGS
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
NGS
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Multiple epiphyseal dysplasia COMP
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NGS
Multiple epiphyseal dysplasia (MED) NGS panel (7 genes) COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
NGS
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Neurofibromatosis and related disorders NGS panel (7 genes) MLH1, MSH2, MSH6, NF1, NF2, PMS2, SPRED1
NGS
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Neurofibromatosis type I NF1
NGS
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Next Generation Sequencing (Any of the NGS panel Genes)
NGS
Noonan spectrum disorder NGS panel (16 genes) BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1
NGS
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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
Del Dup
NGS
Orofaciodigital syndrome I OFD1
NGS
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Osteoarthritis with mild chondrodysplasia COL2A1
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NGS
Osteogenesis imperfecta core NGS panel (2 genes) COL1A1, COL1A2
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NGS
Osteogenesis imperfecta NGS panel - Dominant (7 genes) ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
NGS
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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
Del Dup
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
NGS
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Osteopetrosis core NGS panel (3 genes) CLCN7, OSTM1, TCIRG1
NGS
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Osteopetrosis NGS panel (14 genes) AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
NGS
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Osteopetrosis with renal tubular acidosis 3 CA2
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NGS
Osteopetrosis, autosomal dominant 1 LRP5
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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
NGS
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Osteopetrosis, autosomal recessive 6 PLEKHM1
NGS
Osteoporosis-pseudoglioma syndrome LRP5
NGS
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Otopalatodigital syndrome, type I / II FLNA
NGS
Otospondylomegaepiphyseal dysplasia COL11A2
NGS
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Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
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NGS
Pallister-Hall syndrome GLI3
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NGS
Parkes Weber syndrome RASA1
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NGS
Periventricular nodular heterotopia 1, FLNA
NGS
Platelet bleeding disorders NGS panel (30 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, RASGRP2, TBXA2R, TBXAS1, VWF, WAS, WIPF1
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NGS
Platyspondylic lethal skeletal dysplasia, Torrance type COL2A1
Del Dup
NGS
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Porencephaly 1 COL4A1
NGS
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Porencephaly 2 COL4A2
NGS
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Porencephaly NGS panel (2 genes) COL4A1, COL4A2
NGS
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Pseudoachondroplasia COMP
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NGS
Pseudoxanthoma elasticum ABCC6
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NGS
Pseudoxanthoma elasticum NGS panel (2 genes) ABCC6, GGCX
NGS
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Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
NGS
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Pulmonary hypertension NGS panel (9 genes) ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9
NGS
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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
NGS
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Rhizomelic chondrodysplasia punctata, type 2 GNPAT
NGS
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Rickets, hypophosphatemic, autosomal recessive, 2 ENPP1
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NGS
Rickets, hypophosphatemic, X-linked dominant PHEX
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NGS
Rickets, vitamin D-dependent type I CYP27B1
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NGS
Robinow syndrome NGS panel (4 genes) DVL1, DVL3, ROR2, WNT5A
NGS
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Rubinstein-Taybi syndrome 1 CREBBP
NGS
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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
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NGS
Serpentine fibula-polycystic kidney syndrome NOTCH2
NGS
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Short-rib thoracic dysplasia 2 with or without polydactyly IFT80
NGS
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Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1
NGS
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Short-rib thoracic dysplasia 4 with or without polydactyly TTC21B
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NGS
Short-rib thoracic dysplasia 5 with or without polydactyly WDR19
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NGS
Short-rib thoracic dysplasia 6 with or without polydactyly NEK1
NGS
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Short-rib thoracic dysplasia 7 with or without polydactyly WDR35
NGS
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Short-rib thoracic dysplasia 8 with or without polydactyly WDR60
NGS
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Simpson-Golabi-Behmel syndrome, type 2 OFD1
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NGS
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel (6 genes) EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
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NGS
Skeletal dysplasia - short stature and congenital joint dislocation NGS panel (9 genes) B3GALT6, B3GAT3, CANT1, CHST3, FLNB, IMPAD1, KIF22, SLC26A2, XYLT1
NGS
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Skeletal dysplasia ciliopathy NGS panel (15 genes) DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
NGS
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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
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NGS
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
NGS
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Smith-McCort dysplasia DYM
NGS
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Sotos syndrome 1 NSD1
NGS
Del Dup
Spinal muscular atrophy, distal, X-linked 3 ATP7A
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
NGS
Del Dup
Spondylocarpotarsal synostosis syndrome FLNB
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
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
Del Dup
NGS
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
Del Dup
NGS
Stickler syndrome NGS panel - Recessive (3 genes) COL9A1, COL9A2, COL9A3
Del Dup
NGS
Stickler syndrome, type I COL2A1
NGS
Del Dup
Stickler syndrome, type II COL11A1
NGS
Del Dup
Stickler syndrome, type III COL11A2
NGS
Del Dup
Stuve-Wiedemann syndrome LIFR
NGS
Del Dup
Supravalvular aortic stenosis ELN
NGS
Del Dup
Terminal osseous dysplasia FLNA
NGS
Thanatophoric dysplasia, type I / II FGFR3
NGS
Del Dup
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
NGS
Del Dup
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
Del Dup
NGS
Van Maldergem syndrome 1 DCHS1
NGS
Del Dup
Vascular malformations NGS panel (17 genes) ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ENG, FOXF1, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Del Dup
NGS
Wagner vitreoretinopathy VCAN
Del Dup
NGS
Weaver syndrome EZH2
Del Dup
NGS
Weill-Marchesani syndrome 1 ADAMTS10
Del Dup
NGS
Weill-Marchesani syndrome 2 FBN1
Del Dup
NGS
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
NGS
Del Dup
Weissenbacher-Zweymuller syndrome COL11A2
NGS
Del Dup
Wilson disease ATP7B
NGS
Del Dup
Wolcott-Rallison syndrome EIF2AK3
NGS
Del Dup

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