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
Del Dup
NGS
Achondrogenesis, type IA TRIP11
Del Dup
NGS
Achondrogenesis, type II / Hypochondrogenesis COL2A1
NGS
Del Dup
Achondroplasia / Hypochondroplasia FGFR3
Del Dup
NGS
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Acromesomelic dysplasia, Maroteaux type NPR2
Del Dup
NGS
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
Del Dup
NGS
Adams-Oliver syndrome 6 DLL4
Del Dup
NGS
Adams-Oliver syndrome NGS panel (6 genes) ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
Del Dup
NGS
Alagille syndrome 1 JAG1
NGS
Del Dup
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
NGS
Del Dup
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
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
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
Del Dup
NGS
Arterial calcification, generalized, of infancy NGS panel (2 genes) ABCC6, ENPP1
NGS
Del Dup
Arterial calcification, generalized, of infancy, 1 ENPP1
Del Dup
NGS
Arterial calcification, generalized, of infancy, 2 ABCC6
Del Dup
NGS
Atelosteogenesis, type I / III FLNB
Del Dup
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
Del Dup
NGS
Avascular necrosis of femoral head, primary COL2A1
Del Dup
NGS
Axial spondylometaphyseal dysplasia NGS panel (2 genes) C21orf2, NEK1
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
NGS
Del Dup
Bent bone dysplasia syndrome FGFR2
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel (4 genes) COL12A1, COL6A1, COL6A2, COL6A3
Del Dup
NGS
Boomerang dysplasia FLNB
Del Dup
NGS
Brachyolmia type 3 TRPV4
Del Dup
NGS
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Brittle cornea syndrome 1 ZNF469
Del Dup
NGS
Brittle cornea syndrome 2 PRDM5
Del Dup
NGS
Brittle cornea syndrome NGS panel (2 genes) PRDM5, ZNF469
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
Del Dup
NGS
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
Catel-Manzke syndrome TGDS
Del Dup
NGS
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy NOTCH3
Del Dup
NGS
Cerebral cavernous malformations 1 KRIT1
Del Dup
NGS
Cerebral cavernous malformations 2 CCM2
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NGS
Cerebral cavernous malformations 3 PDCD10
Del Dup
NGS
Cerebral cavernous malformations NGS panel (3 genes) CCM2, KRIT1, PDCD10
NGS
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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
Del Dup
NGS
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
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
NGS
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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
Del Dup
NGS
Chondrodysplasia punctata 1, X-linked recessive ARSE
Del Dup
NGS
Chondrodysplasia punctata 2, X-linked dominant EBP
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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
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NGS
Chondrodysplasia, Grebe type GDF5
Del Dup
NGS
Cleidocranial dysplasia RUNX2
Del Dup
NGS
Cole-Carpenter syndrome 1 P4HB
Del Dup
NGS
Cole-Carpenter syndrome 2 SEC24D
Del Dup
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
NGS
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Cornelia de Lange syndrome 1 NIPBL
Del Dup
NGS
Cornelia de Lange syndrome NGS panel (5 genes) HDAC8, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Cranioectodermal dysplasia 2 WDR35
NGS
Del Dup
Cranioectodermal dysplasia 4 WDR19
Del Dup
NGS
Craniometaphyseal dysplasia, autosomal dominant ANKH
Del Dup
NGS
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
Del Dup
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 1B EFEMP2
Del Dup
NGS
Cutis laxa, autosomal recessive IC LTBP4
Del Dup
NGS
Cutis laxa, autosomal recessive IIA ATP6V0A2
NGS
Del Dup
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB PYCR1
Del Dup
NGS
Czech dysplasia COL2A1
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 1 CANT1
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel (11 genes) B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
NGS
Del Dup
Desbuquois dysplasia core NGS panel (4 genes) CANT1, CSGALNACT1, IMPAD1, XYLT1
Del Dup
NGS
Diaphanospondylodysostosis BMPER
Del Dup
NGS
Digital arthropathy-brachydactyly, familial TRPV4
Del Dup
NGS
Distal arthrogryposes NGS panel (10 genes) ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
NGS
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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 (20 genes) ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
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
NGS
Del Dup
Ectopia lentis NGS panel (2 genes) ADAMTSL4, FBN1
NGS
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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
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, COL12A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469
NGS
Del Dup
Ehlers-Danlos syndrome, classic type NGS panel (2 genes) COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome, periodontal type NGS panel (2 genes) C1R, C1S
NGS
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Ehlers-Danlos syndrome, progeroid type, 1 B4GALT7
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 / 2 (2 genes) B3GALT6, B4GALT7
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 2 B3GALT6
NGS
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
Del Dup
NGS
Ehlers-Danlos syndrome, type IV COL3A1
Del Dup
NGS
Ehlers-Danlos syndrome, type VI PLOD1
Del Dup
NGS
Eiken syndrome PTH1R
Del Dup
NGS
Ellis-van Creveld syndrome NGS Panel (2 genes) EVC, EVC2
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
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NGS
Epidermolysis bullosa NGS panel (23 genes) CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, SERPINB8, TGM5
NGS
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Exostoses, multiple, type I EXT1
Del Dup
NGS
Exostoses, multiple, type II EXT2
Del Dup
NGS
Exudative vitreoretinopathy 4 LRP5
Del Dup
NGS
Exudative vitreoretinopathy 5 TSPAN12
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
Del Dup
NGS
Fibrochondrogenesis NGS panel (2 genes) COL11A1, COL11A2
NGS
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Fibrodysplasia ossificans progressiva ACVR1
Del Dup
NGS
Fibular hypoplasia and complex brachydactyly GDF5
Del Dup
NGS
Frontometaphyseal dysplasia FLNA
NGS
Frontometaphyseal dysplasia NGS panel (3 genes) FLNA, MAP3K7, TAB2
Del Dup
NGS
Glomuvenous malformations GLMN
Del Dup
NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel (2 genes) GLMN, TEK
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NGS
Gnathodiaphyseal dysplasia ANO5
Del Dup
NGS
Gracile bone dysplasia FAM111A
NGS
Del Dup
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
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
Del Dup
NGS
Hereditary motor and sensory neuropathy, type IIC TRPV4
Del Dup
NGS
Homocystinuria CBS
Del Dup
NGS
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel (3 genes) FGF23, GALNT3, KL
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NGS
Ichthyosis NGS panel - Nonsyndromic (26 genes) ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, TGM1, TGM5
Del Dup
NGS
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 VCP
Del Dup
NGS
Insulin-like growth factor I deficiency IGF1
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
Insulin-like growth factor I, resistance to IGF1R
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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
NGS
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Kenny-Caffey syndrome NGS panel (2 genes) FAM111A, TBCE
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NGS
Kenny-Caffey syndrome, type 1 TBCE
NGS
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Kenny-Caffey syndrome, type 2 FAM111A
Del Dup
NGS
Klippel-Feil syndrome NGS panel (5 genes) GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
Del Dup
NGS
Kniest dysplasia COL2A1
Del Dup
NGS
Knobloch syndrome 1 COL18A1
Del Dup
NGS
Larsen syndrome, autosomal dominant FLNB
Del Dup
NGS
Larsen syndrome, autosomal recessive CHST3
Del Dup
NGS
Lateral meningocele syndrome NOTCH3
Del Dup
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
Del Dup
NGS
Loeys-Dietz syndrome NGS panel (5 genes) SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel (3 genes) FBN1, TGFBR1, TGFBR2
NGS
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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
Del Dup
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
Del Dup
NGS
Marfan syndrome, type I / II NGS panel (2 genes) FBN1, TGFBR2
NGS
Del Dup
Marshall syndrome COL11A1
Del Dup
NGS
Marshall-Smith syndrome NFIX
Del Dup
NGS
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Meier-Gorlin syndrome 2 ORC4
Del Dup
NGS
Meier-Gorlin syndrome 3 ORC6
Del Dup
NGS
Meier-Gorlin syndrome 4 CDT1
Del Dup
NGS
Meier-Gorlin syndrome 5 CDC6
Del Dup
NGS
Meier-Gorlin syndrome NGS panel (8 genes) CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6
NGS
Del Dup
Melnick-Needles syndrome FLNA
NGS
Menkes disease ATP7A
Del Dup
NGS
Metaphyseal anadysplasia 1 MMP13
Del Dup
NGS
Metaphyseal anadysplasia 2 MMP9
Del Dup
NGS
Metaphyseal anadysplasia NGS panel (2 genes) MMP13, MMP9
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
Del Dup
NGS
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
Del Dup
NGS
Metaphyseal dysplasia, Spahr type MMP13
Del Dup
NGS
Metatropic dysplasia TRPV4
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
Del Dup
NGS
Microcephaly-capillary malformation syndrome STAMBP
Del Dup
NGS
Mitral valve prolapse 2 DCHS1
Del Dup
NGS
Mowat-Wilson syndrome ZEB2
Del Dup
NGS
Mucopolysaccharidosis NGS panel (14 genes) ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH
NGS
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Multiple epiphyseal dysplasia COMP
NGS
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Multiple epiphyseal dysplasia (MED) NGS panel (7 genes) COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Del Dup
NGS
Multiple exostoses NGS panel (2 genes) EXT1, EXT2
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NGS
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
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NGS
Myofibrillar myopathy and related disorders NGS panel (11 genes) ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
NGS
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Nail-patella syndrome LMX1B
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NGS
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
Neu-Laxova syndrome 1 PHGDH
Del Dup
NGS
Neu-Laxova syndrome 2 PSAT1
Del Dup
NGS
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
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
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel (9 genes) AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
Del Dup
NGS
Omodysplasia 1 GPC6
Del Dup
NGS
Opsismodysplasia INPPL1
Del Dup
NGS
Orofaciodigital syndrome I OFD1
Del Dup
NGS
Osteoarthritis with mild chondrodysplasia COL2A1
Del Dup
NGS
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
Del Dup
NGS
Osteogenesis imperfecta, PLS3 related PLS3
Del Dup
NGS
Osteogenesis imperfecta, type VIII P3H1
NGS
Del Dup
Osteogenesis imperfecta, type XIII BMP1
Del Dup
NGS
Osteogenesis imperfecta, type XVI CREB3L1
Del Dup
NGS
Osteogenesis imperfecta, types I, II, III & IV COL1A1
Del Dup
NGS
Osteogenesis imperfecta, types I, II, III & IV COL1A2
Del Dup
NGS
Osteopathia striata with cranial sclerosis AMER1
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
Osteopetrosis with renal tubular acidosis 3 CA2
Del Dup
NGS
Osteopetrosis, autosomal dominant 1 LRP5
Del Dup
NGS
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 CLCN7
Del Dup
NGS
Osteopetrosis, autosomal recessive 1 TCIRG1
Del Dup
NGS
Osteopetrosis, autosomal recessive 2 TNFSF11
Del Dup
NGS
Osteopetrosis, autosomal recessive 5 OSTM1
Del Dup
NGS
Osteopetrosis, autosomal recessive 6 PLEKHM1
Del Dup
NGS
Osteopetrosis, autosomal recessive 7 TNFRSF11A
Del Dup
NGS
Osteoporosis-pseudoglioma syndrome LRP5
Del Dup
NGS
Otopalatodigital syndrome, type I / II FLNA
NGS
Otospondylomegaepiphyseal dysplasia COL11A2
Del Dup
NGS
Overgrowth syndrome NGS panel (7 genes) EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Paget disease of bone 2 TNFRSF11A
NGS
Del Dup
Paget disease of bone 3 SQSTM1
Del Dup
NGS
Paget disease of bone 5 TNFRSF11B
Del Dup
NGS
Paget disease of bone 6 ZNF687
Del Dup
NGS
Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
NGS
Del Dup
Pallister-Hall syndrome GLI3
Del Dup
NGS
Parastremmatic dwarfism TRPV4
Del Dup
NGS
Parkes Weber syndrome RASA1
NGS
Del Dup
Periventricular nodular heterotopia 1, FLNA
NGS
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
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
Del Dup
NGS
Pseudoachondroplasia COMP
Del Dup
NGS
Pseudoxanthoma elasticum ABCC6
Del Dup
NGS
Pseudoxanthoma elasticum NGS panel (2 genes) ABCC6, GGCX
NGS
Del Dup
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
Del Dup
NGS
Pulmonary hypertension NGS panel (9 genes) ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9
Del Dup
NGS
Pulmonary hypertension, primary, 1 BMPR2
Del Dup
NGS
Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
Del Dup
NGS
Pulmonary venoocclusive disease 2, autosomal recessive EIF2AK4
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 3 AGPS
Del Dup
NGS
Rickets, hypophosphatemic, autosomal recessive, 1 DMP1
Del Dup
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
NGS
Del Dup
Robinow syndrome, autosomal dominant 2 DVL1
Del Dup
NGS
Rubinstein-Taybi syndrome 1 CREBBP
Del Dup
NGS
Rubinstein-Taybi syndrome 2 EP300
NGS
Del Dup
Rubinstein-Taybi syndrome NGS panel (2 genes) CREBBP, EP300
Del Dup
NGS
Scapuloperoneal spinal muscular atrophy TRPV4
Del Dup
NGS
Schneckenbecken dysplasia, INPPL1 related INPPL1
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
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
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
Del Dup
NGS
Short-rib thoracic dysplasia 8 with or without polydactyly WDR60
Del Dup
NGS
Shprintzen-Goldberg craniosynostosis syndrome SKI
Del Dup
NGS
Simpson-Golabi-Behmel syndrome GPC3
NGS
Del Dup
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel (19 genes) C21orf2, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, 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
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-Lemli-Opitz syndrome DHCR7
Del Dup
NGS
Smith-McCort dysplasia DYM
Del Dup
NGS
Smith-McCort dysplasia NGS panel (2 genes) DYM, RAB33B
Del Dup
NGS
Sotos syndrome 1 NSD1
Del Dup
NGS
Sotos syndrome 2 NFIX
Del Dup
NGS
Spinal muscular atrophy, distal, congenital nonprogressive TRPV4
Del Dup
NGS
Spinal muscular atrophy, distal, X-linked 3 ATP7A
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel (51 genes) ACP5, B3GALT6, B3GAT3, BGN, C21orf2, 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, NEK1, NKX3-2, NPR2, PAM16, PAPSS2, PCYT1A, PTH1R, RAB33B, 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
Del Dup
NGS
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 with joint laxity, type 1, with or without fractures B3GALT6
Del Dup
NGS
Spondyloepimetaphyseal dysplasia, Missouri type MMP13
Del Dup
NGS
Spondyloepimetaphyseal dysplasia, Strudwick type COL2A1
Del Dup
NGS
Spondyloepiphyseal dysplasia congenita COL2A1
Del Dup
NGS
Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
Del Dup
NGS
Spondyloepiphyseal dysplasia, Maroteaux type TRPV4
Del Dup
NGS
Spondylometaphyseal dysplasia, Kozlowski type TRPV4
Del Dup
NGS
Spondyloocular syndrome XYLT2
Del Dup
NGS
Spondyloperipheral dysplasia COL2A1
Del Dup
NGS
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
Del Dup
NGS
Stickler syndrome, type I COL2A1
NGS
Del Dup
Stickler syndrome, type II COL11A1
Del Dup
NGS
Stickler syndrome, type III COL11A2
Del Dup
NGS
Stiff skin syndrome FBN1
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
Del Dup
NGS
Three M syndrome 2 OBSL1
NGS
Del Dup
Three M syndrome NGS panel (3 genes) CCDC8, CUL7, OBSL1
NGS
Del Dup
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
NGS
Del Dup
Torg-Winchester syndrome MMP2
Del Dup
NGS
Treacher Collins syndrome 1 TCOF1
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel (6 genes) DHODH, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1
Del Dup
NGS
Trichorhinophalangeal syndrome, type I / III TRPS1
Del Dup
NGS
Van Buchem disease, type 2 LRP5
Del Dup
NGS
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
Waardenburg syndrome NGS panel (7 genes) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Del Dup
NGS
Wagner vitreoretinopathy VCAN
NGS
Del Dup
Weaver and Cohen-Gibson syndrome NGS panel (2 genes) EED, EZH2
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
NGS
Del Dup
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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