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
Del Dup
Achondrogenesis NGS panel (3 genes) COL2A1, SLC26A2, TRIP11
NGS
Del Dup
Achondrogenesis, type IA TRIP11
Del Dup
NGS
Achondrogenesis, type II / Hypochondrogenesis COL2A1
NGS
Del Dup
Achondroplasia / Hypochondroplasia FGFR3
NGS
Del Dup
Adams-Oliver Syndrome 1 ARHGAP31
Del Dup
NGS
Adams-Oliver syndrome 2 DOCK6
Del Dup
NGS
Adams-Oliver syndrome 3 RBPJ
Del Dup
NGS
Adams-Oliver syndrome 4 EOGT
Del Dup
NGS
Adams-Oliver syndrome 5 NOTCH1
NGS
Del Dup
Adams-Oliver syndrome NGS panel (6 genes) ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
NGS
Del Dup
Alagille syndrome 1 JAG1
Del Dup
NGS
Alagille syndrome 2 NOTCH2
Del Dup
NGS
Alagille syndrome NGS panel (3 genes) ATP8B1, JAG1, NOTCH2
Del Dup
NGS
Alagille syndrome, ATP8B1 related ATP8B1
Del Dup
NGS
Alport syndrome NGS panel (4 genes) COL4A3, COL4A4, COL4A5, COL4A6
Del Dup
NGS
Alport syndrome, X-linked COL4A5
Del Dup
NGS
Amelogenesis imperfecta and related disorders NGS panel (16 genes) AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72
Del Dup
NGS
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
Del Dup
NGS
Aortic aneurysm, familial thoracic 4 MYH11
Del Dup
NGS
Aortic aneurysm, familial thoracic 7 MYLK
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
Del Dup
NGS
Aortic valve disease 1 NOTCH1
NGS
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Arterial calcification, generalized, of infancy NGS panel (2 genes) ABCC6, ENPP1
NGS
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Arterial calcification, generalized, of infancy, 1 ENPP1
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NGS
Arterial calcification, generalized, of infancy, 2 ABCC6
Del Dup
NGS
Atelosteogenesis, type I / III FLNB
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
Del Dup
NGS
Avascular necrosis of femoral head, primary COL2A1
Del Dup
NGS
Basal cell nevus syndrome - PTCH1 PTCH1
Del Dup
NGS
Basal cell nevus syndrome - PTCH2 PTCH2
Del Dup
NGS
Basal cell nevus syndrome NGS panel (3 genes) PTCH1, PTCH2, SUFU
Del Dup
NGS
Bent bone dysplasia syndrome FGFR2
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL6A1, COL6A2, COL6A3
Del Dup
NGS
Boomerang dysplasia FLNB
Del Dup
NGS
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Bruck syndrome 2 PLOD2
Del Dup
NGS
Buschke-Ollendorff syndrome LEMD3
Del Dup
NGS
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
NGS
Del Dup
Camurati-Engelmann disease TGFB1
Del Dup
NGS
Cantu syndrome ABCC9
Del Dup
NGS
Cantu syndrome NGS panel (2 genes) ABCC9, KCNJ8
Del Dup
NGS
Capillary malformation arteriovenous malformation RASA1
Del Dup
NGS
Cardiac valvular dysplasia, X-linked FLNA
NGS
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy NOTCH3
Del Dup
NGS
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
Del Dup
Cholestasis NGS Panel (4 genes) ABCB11, ABCB4, ATP8B1, TJP2
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NGS
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
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NGS
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
Del Dup
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
NGS
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Cole-Carpenter syndrome NGS panel (2 genes) P4HB, SEC24D
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NGS
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
NGS
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Cornelia de Lange syndrome 1 NIPBL
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NGS
Cornelia de Lange syndrome NGS panel (5 genes) HDAC8, NIPBL, RAD21, SMC1A, SMC3
NGS
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Cranioectodermal dysplasia 2 WDR35
NGS
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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
NGS
Del Dup
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
Del Dup
NGS
Cutis laxa NGS panel (7 genes) ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Del Dup
NGS
Cutis laxa, autosomal dominant 1 ELN
Del Dup
NGS
Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA FBLN5
Del Dup
NGS
Cutis laxa, autosomal recessive IC LTBP4
Del Dup
NGS
Cutis laxa, autosomal recessive IIA ATP6V0A2
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Czech dysplasia COL2A1
NGS
Del Dup
Dense bone dysplasia NGS panel (14 genes) ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel (10 genes) B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, IMPAD1, KIF22, SLC26A2, XYLT1
NGS
Del Dup
Desbuquois dysplasia core NGS panel (4 genes) CANT1, CSGALNACT1, IMPAD1, XYLT1
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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 (22 genes) ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SLC5A7, TRPV4
Del Dup
NGS
Dyggve-Melchior-Clausen disease DYM
Del Dup
NGS
Dyskeratosis congenita NGS panel (12 genes) ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Del Dup
NGS
Dyssegmental dysplasia, Silverman-Handmaker type HSPG2
Del Dup
NGS
Ectodermal dysplasia NGS panel (8 genes) EDA, EDAR, EDARADD, GJB6, HOXC13, KRT74, KRT85, MSX1
Del Dup
NGS
Ectopia lentis NGS panel (2 genes) ADAMTSL4, FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal dominant FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal recessive ADAMTSL4
Del Dup
NGS
Ehlers-Danlos syndrome core NGS panel (3 genes) COL3A1, COL5A1, COL5A2
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant (6 genes) COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive (13 genes) ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive (7 genes) ADAMTS2, ATP7A, CHST14, DSE, FKBP14, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, classic type NGS panel (2 genes) COL5A1, COL5A2
NGS
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Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II - (COL5A1) COL5A1
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II - (COL5A2) COL5A2
NGS
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Ehlers-Danlos syndrome, type IV COL3A1
NGS
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Ehlers-Danlos syndrome, type VI PLOD1
NGS
Del Dup
Eiken syndrome PTH1R
NGS
Del Dup
Ellis-van Creveld syndrome NGS Panel (2 genes) EVC, EVC2
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
Del Dup
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
Del Dup
NGS
Exudative vitreoretinopathy 4 LRP5
Del Dup
NGS
Exudative vitreoretinopathy NGS panel (7 genes) CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
Del Dup
NGS
Failure of tooth eruption, primary PTH1R
NGS
Del Dup
FGFR2 related craniosynostosis FGFR2
Del Dup
NGS
Fibrillinopathy NGS panel (3 genes) CBS, FBN1, FBN2
NGS
Del Dup
Fibrochondrogenesis 1 COL11A1
Del Dup
NGS
Fibrochondrogenesis 2 COL11A2
NGS
Del Dup
Fibrochondrogenesis NGS panel (2 genes) COL11A1, COL11A2
Del Dup
NGS
Frontometaphyseal dysplasia FLNA
NGS
Frontometaphyseal dysplasia NGS panel (3 genes) FLNA, MAP3K7, TAB2
Del Dup
NGS
Glomuvenous malformations GLMN
NGS
Del Dup
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes) GLMN, TEK
Del Dup
NGS
Greig cephalopolysyndactyly syndrome GLI3
NGS
Del Dup
Hajdu-Cheney syndrome NOTCH2
NGS
Del Dup
Hereditary Hemorrhagic telangiectasia NGS panel (5 genes) ACVRL1, ENG, GDF2, RASA1, SMAD4
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
NGS
Del Dup
Homocystinuria CBS
NGS
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Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
NGS
Del Dup
Hyperphosphatemic familial tumoral calcinosis NGS panel (3 genes) FGF23, GALNT3, KL
Del Dup
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
Del Dup
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
Del Dup
NGS
Klippel-Feil syndrome NGS panel (5 genes) GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
Del Dup
NGS
Kniest dysplasia COL2A1
NGS
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Knobloch syndrome 1 COL18A1
Del Dup
NGS
Larsen syndrome, autosomal dominant FLNB
NGS
Del Dup
Lateral meningocele syndrome NOTCH3
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel (31 genes) ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
NGS
Del Dup
Loeys-Dietz syndrome NGS panel (5 genes) SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
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Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
NGS
Del Dup
Marfan syndrome and Loeys-Dietz syndrome NGS panel (6 genes) FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed (25 genes) ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible ACTA2, COL3A1, FBN1, MYH11, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
NGS
Marfan syndrome, type I FBN1
NGS
Del Dup
Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
Del Dup
NGS
Marshall syndrome COL11A1
NGS
Del Dup
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Meier-Gorlin syndrome NGS panel (7 genes) CDC45, CDC6, CDT1, GMNN, ORC1, ORC4, ORC6
NGS
Del Dup
Melnick-Needles syndrome FLNA
NGS
Menkes disease ATP7A
Del Dup
NGS
Metaphyseal anadysplasia NGS panel (2 genes) MMP13, MMP9
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
NGS
Del Dup
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
NGS
Del Dup
Mitral valve prolapse 2 DCHS1
NGS
Del Dup
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
Del Dup
Myofibrillar myopathy and related disorders NGS panel (8 genes) BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
Del Dup
NGS
Nail-patella syndrome LMX1B
NGS
Del Dup
Nephrotic syndrome and related disorders NGS panel (32 genes) ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, INF2, ITGA3, ITGB4, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WDR73, WT1
Del Dup
NGS
Neurofibromatosis and related disorders NGS panel (6 genes) MLH1, MSH2, MSH6, NF1, NF2, SPRED1
NGS
Del Dup
Neurofibromatosis type I NF1
Del Dup
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
Del Dup
NGS
Occipital horn syndrome ATP7A
NGS
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Oligodontia - Selective tooth agenesis NGS panel (9 genes) AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
NGS
Del Dup
Orofaciodigital syndrome I OFD1
Del Dup
NGS
Osteoarthritis with mild chondrodysplasia COL2A1
NGS
Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 panel (2 genes) COL1A1, COL1A2
Del Dup
NGS
Osteogenesis imperfecta core NGS panel (3 genes) COL1A1, COL1A2, IFITM5
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant (7 genes) ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
NGS
Del Dup
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
NGS
Del Dup
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
Del Dup
Osteogenesis imperfecta, PLS3 related PLS3
NGS
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Osteogenesis imperfecta, type XIII BMP1
NGS
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Osteogenesis imperfecta, types I, II, III & IV COL1A1
NGS
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Osteogenesis imperfecta, types I, II, III & IV COL1A2
NGS
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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
Del Dup
NGS
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
NGS
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Osteopetrosis, autosomal dominant 1 LRP5
NGS
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Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 CLCN7
NGS
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Osteopetrosis, autosomal recessive 1 TCIRG1
NGS
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Osteopetrosis, autosomal recessive 2 TNFSF11
NGS
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Osteopetrosis, autosomal recessive 6 PLEKHM1
NGS
Osteoporosis-pseudoglioma syndrome LRP5
NGS
Del Dup
Otopalatodigital syndrome, type I / II FLNA
NGS
Otospondylomegaepiphyseal dysplasia COL11A2
Del Dup
NGS
Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
NGS
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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
Del Dup
NGS
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Porencephaly 1 COL4A1
Del Dup
NGS
Porencephaly 2 COL4A2
Del Dup
NGS
Porencephaly NGS panel (2 genes) COL4A1, COL4A2
NGS
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Pseudoachondroplasia COMP
Del Dup
NGS
Pseudoxanthoma elasticum ABCC6
Del Dup
NGS
Pseudoxanthoma elasticum NGS panel (2 genes) ABCC6, GGCX
Del Dup
NGS
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
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NGS
Pulmonary hypertension, primary, 1 BMPR2
Del Dup
NGS
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
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
NGS
Del Dup
Rubinstein-Taybi syndrome 1 CREBBP
Del Dup
NGS
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
NGS
Del Dup
Serpentine fibula-polycystic kidney syndrome NOTCH2
NGS
Del Dup
Short-rib thoracic dysplasia 2 with or without polydactyly IFT80
Del Dup
NGS
Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1
NGS
Del Dup
Short-rib thoracic dysplasia 4 with or without polydactyly TTC21B
Del Dup
NGS
Short-rib thoracic dysplasia 5 with or without polydactyly WDR19
NGS
Del Dup
Short-rib thoracic dysplasia 6 with or without polydactyly NEK1
NGS
Del Dup
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
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel (15 genes) DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel (29 genes) ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
NGS
Del Dup
Skeletal dysplasia core NGS panel (10 genes) ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
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
NGS
Del Dup
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
Del Dup
NGS
Spondylocarpotarsal synostosis syndrome FLNB
NGS
Del Dup
Spondylocostal dysostosis NGS panel (6 genes) DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel (2 genes) B3GALT6, KIF22
NGS
Del Dup
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
NGS
Del Dup
Spondyloepimetaphyseal dysplasia, Strudwick type COL2A1
NGS
Del Dup
Spondyloepiphyseal dysplasia congenita COL2A1
Del Dup
NGS
Spondyloperipheral dysplasia COL2A1
NGS
Del Dup
Steel syndrome COL27A1
NGS
Del Dup
Stickler syndrome core NGS panel (3 genes) COL11A1, COL11A2, COL2A1
Del Dup
NGS
Stickler syndrome NGS panel (7 genes) COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
Del Dup
NGS
Stickler syndrome NGS panel - Recessive (3 genes) COL9A1, COL9A2, COL9A3
NGS
Del Dup
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
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
Del Dup
NGS
Van Maldergem syndrome 1 DCHS1
NGS
Del Dup
Vascular malformations NGS panel (19 genes) ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
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
Del Dup
NGS
Wagner vitreoretinopathy VCAN
Del Dup
NGS
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
NGS
Del Dup
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
Del Dup
NGS
Wolcott-Rallison syndrome EIF2AK3
Del Dup
NGS

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