Browse CTGT's catalogue of connective tissue tests, including NGS panels, by disorder and panel name.

A

Ablepharon-macrostomia syndrome TWIST2
Sanger
Del Dup
Abnormal mineralization disorders NGS panel ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
Del Dup
NGS
Achondrogenesis NGS panel COL2A1, SLC26A2, TRIP11
Del Dup
NGS
Achondrogenesis, type IA TRIP11
Del Dup
NGS
Achondrogenesis, type IB - SLC26A2 SLC26A2
Sanger
Del Dup
Achondrogenesis, type II / Hypochondrogenesis COL2A1
Del Dup
NGS
Achondroplasia / Hypochondroplasia FGFR3
Sanger
Del Dup
NGS
Acrofacial dysostosis 1, Nager type SF3B4
Sanger
Del Dup
Acromelic frontonasal dysostosis ZSWIM6
Del Dup
NGS
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Acromesomelic dysplasia, Maroteaux type NPR2
Del Dup
NGS
Acromicric dysplasia FBN1
Sanger
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 ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
Del Dup
NGS
Alagille syndrome 1 JAG1
Del Dup
NGS
Alagille syndrome 2 NOTCH2
Del Dup
NGS
Alagille syndrome NGS panel ATP8B1, JAG1, NOTCH2
Del Dup
NGS
Alagille syndrome, ATP8B1 related ATP8B1
Del Dup
NGS
Alpha-1-antitrypsin deficiency SERPINA1
Sanger
Del Dup
Alport syndrome NGS panel COL4A3, COL4A4, COL4A5, COL4A6
Del Dup
NGS
Alport syndrome, X-linked COL4A5
Del Dup
NGS
Amelogenesis imperfecta and related disorders NGS panel AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72
Del Dup
NGS
Amelogenesis imperfecta, type IV DLX3
Sanger
Del Dup
Amyotrophic lateral sclerosis and related disorders NGS panel ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
Del Dup
NGS
Anauxetic dysplasia RMRP
Sanger
Del Dup
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps COL4A1
Del Dup
NGS
Aortic aneurysm, familial thoracic 3 TGFBR2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 4 MYH11
Del Dup
NGS
Aortic aneurysm, familial thoracic 5 TGFBR1
Sanger
Del Dup
Aortic aneurysm, familial thoracic 6 ACTA2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 7 MYLK
Del Dup
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
Del Dup
NGS
Aortic aneurysm, familial thoracic 9 MFAP5
Sanger
Del Dup
Aortic valve disease 1 NOTCH1
Del Dup
NGS
Apert syndrome FGFR2
Sanger
Arterial calcification, generalized, of infancy NGS panel ABCC6, ENPP1
Del Dup
NGS
Arterial calcification, generalized, of infancy, 1 ENPP1
Del Dup
NGS
Arterial calcification, generalized, of infancy, 2 ABCC6
Del Dup
NGS
Arterial tortuosity syndrome SLC2A10
Sanger
Del Dup
Atelosteogenesis, type I / III FLNB
Sanger
Del Dup
NGS
Atelosteogenesis, type II SLC26A2
Sanger
Del Dup
Atrial fibrillation NGS panel ABCC9, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYL4, NPPA, NUP155, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5
Del Dup
NGS
Atrioventricular block NGS Panel DES, EMD, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4
Del Dup
NGS
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel 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 C21orf2, NEK1
Del Dup
NGS

B

Barber-Say syndrome TWIST2
Sanger
Del Dup
Basal cell nevus syndrome - PTCH1 PTCH1
Del Dup
NGS
Basal cell nevus syndrome - PTCH2 PTCH2
Del Dup
NGS
Basal cell nevus syndrome - SUFU SUFU
Del Dup
NGS
Basal cell nevus syndrome NGS panel PTCH1, PTCH2, SUFU
Del Dup
NGS
Beare-Stevenson cutis gyrata syndrome FGFR2
Sanger
Bent bone dysplasia syndrome FGFR2
Sanger
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL12A1, COL6A1, COL6A2, COL6A3
Del Dup
NGS
Birt-Hogg-Dube syndrome FLCN
Del Dup
NGS
Boomerang dysplasia FLNB
Sanger
Del Dup
NGS
Brachyolmia type 3 TRPV4
Del Dup
NGS
Brain small vessel disease with or without ocular anomalies COL4A1
Del Dup
NGS
Branchiooculofacial syndrome TFAP2A
Sanger
Del Dup
Brittle cornea syndrome 1 ZNF469
Del Dup
NGS
Brittle cornea syndrome 2 PRDM5
Del Dup
NGS
Brittle cornea syndrome NGS panel PRDM5, ZNF469
Del Dup
NGS
Bruck syndrome 2 PLOD2
Del Dup
NGS
Brugada syndrome and related disorders NGS panel ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4
Del Dup
NGS
Buschke-Ollendorff syndrome LEMD3
Del Dup
NGS

C

Caffey disease COL1A1
Del Dup
NGS
Campomelic dysplasia SOX9
Sanger
Del Dup
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 ABCC9, KCNJ8
Del Dup
NGS
Cantu syndrome, KCNJ8 related KCNJ8
Sanger
Del Dup
Capillary malformation arteriovenous malformation RASA1
Del Dup
NGS
Cardiac channelopathy NGS panel ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4
Del Dup
NGS
Cardiac valvular dysplasia, X-linked FLNA
Del Dup
NGS
Cartilage-hair hypoplasia RMRP
Sanger
Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
Del Dup
NGS
Catel-Manzke syndrome TGDS
Del Dup
NGS
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1 NOTCH3
Del Dup
NGS
Cerebral cavernous malformations 1 KRIT1
Del Dup
NGS
Cerebral cavernous malformations 2 CCM2
Del Dup
NGS
Cerebral cavernous malformations 3 PDCD10
Del Dup
NGS
Cerebral cavernous malformations NGS panel CCM2, KRIT1, PDCD10
Del Dup
NGS
Charcot-Marie-Tooth disease NGS panel 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 ABCB11, ABCB4, ATP8B1, TJP2
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 1 ATP8B1
Del Dup
NGS
Cholestasis, benign recurrent intrahepatic, 2 ABCB11
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 1 ATP8B1
Del Dup
NGS
Cholestasis, intrahepatic, of pregnancy, 3 ABCB4
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 1 ATP8B1
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 2 ABCB11
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 3 ABCB4
Del Dup
NGS
Cholestasis, progressive familial intrahepatic, 4 TJP2
Del Dup
NGS
Chondrocalcinosis 2 ANKH
Del Dup
NGS
Chondrodysplasia punctata 1, X-linked recessive ARSE
Del Dup
NGS
Chondrodysplasia punctata 2, X-linked dominant EBP
Del Dup
NGS
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
Del Dup
NGS
Chondrodysplasia with joint dislocations, GPAPP type IMPAD1
Sanger
Del Dup
Chondrodysplasia, Blomstrand type PTH1R
Del Dup
NGS
Chondrodysplasia, Grebe type GDF5
Del Dup
NGS
Cleft lip, cleft palate and related disorders NGS panel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, NECTIN1, SATB2, TBX22, TGDS, TP63
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 P4HB, SEC24D
Del Dup
NGS
Congenital contractural arachnodactyly FBN2
Del Dup
NGS
Congenital contracture syndrome extended NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
Del Dup
NGS
Congenital heart disease NGS panel CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TBX1, TBX20, TBX5, ZIC3
Del Dup
NGS
Cornelia de Lange syndrome 1 NIPBL
Del Dup
NGS
Cornelia de Lange syndrome NGS panel HDAC8, NIPBL, RAD21, SMC1A, SMC3
Del Dup
NGS
Craniodiaphyseal dysplasia, autosomal dominant SOST
Sanger
Del Dup
Cranioectodermal dysplasia 2 WDR35
Del Dup
NGS
Cranioectodermal dysplasia 4 WDR19
Del Dup
NGS
Craniofrontonasal syndrome EFNB1
Sanger
Del Dup
Craniometaphyseal dysplasia, autosomal dominant ANKH
Del Dup
NGS
Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1
Del Dup
NGS
Craniosynostosis NGS panel 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
Del Dup
NGS
Craniosynostosis, type 1 TWIST1
Sanger
Del Dup
Crouzon syndrome FGFR2
Sanger
Crouzon syndrome with acanthosis nigricans FGFR3
Sanger
Cutaneomucosal venous malformations TEK
Del Dup
NGS
Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, 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
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB PYCR1
Del Dup
NGS
Czech dysplasia COL2A1
Sanger
Del Dup
NGS

D

Dense bone dysplasia NGS panel ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Del Dup
NGS
Desbuquois dysplasia 1 CANT1
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Desbuquois dysplasia core NGS panel CANT1, CSGALNACT1, IMPAD1, XYLT1
Del Dup
NGS
Diamond-Blackfan anemia NGS panel GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
Del Dup
NGS
Diaphanospondylodysostosis BMPER
Del Dup
NGS
Diastrophic dysplasia SLC26A2
Sanger
Del Dup
Digital arthropathy-brachydactyly, familial TRPV4
Del Dup
NGS
Distal arthrogryposes NGS panel ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4
Del Dup
NGS
Distal Myopathy 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
Dyggve-Melchior-Clausen disease NGS panel DYM, RAB33B
Del Dup
NGS
Dyskeratosis congenita NGS panel ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Del Dup
NGS
Dyssegmental dysplasia, Silverman-Handmaker type HSPG2
Del Dup
NGS

E

Ectodermal dysplasia 1, hypohidrotic, X-linked EDA
Sanger
Del Dup
Ectodermal dysplasia NGS panel EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KRT74, KRT85, MSX1
Del Dup
NGS
Ectopia lentis NGS panel 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 COL3A1, COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive 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 ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, ZNF469
Del Dup
NGS
Ehlers-Danlos syndrome, classic type NGS panel COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome, musculocontractural type CHST14
Sanger
Del Dup
Ehlers-Danlos syndrome, periodontal type NGS panel C1R, C1S
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 B4GALT7
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 2 B3GALT6
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, NGS panel B3GALT6, B4GALT7
Del Dup
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
Ehlers-Danlos syndrome, type VIIA / VIIB COL1A1, COL1A2
Sanger
Del Dup
Eiken syndrome PTH1R
Del Dup
NGS
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel EVC, EVC2
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant & recessive COL7A1
Del Dup
NGS
Epidermolysis bullosa NGS panel CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, SERPINB8, TGM5
Del Dup
NGS
Exostoses, multiple, type I EXT1
Del Dup
NGS
Exostoses, multiple, type II EXT2
Del Dup
NGS
Exudative vitreoretinopathy 1 FZD4
Sanger
Del Dup
Exudative vitreoretinopathy 2, X-linked NDP
Sanger
Del Dup
Exudative vitreoretinopathy 4 LRP5
Del Dup
NGS
Exudative vitreoretinopathy 5 TSPAN12
Del Dup
NGS
Exudative vitreoretinopathy NGS panel CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
Del Dup
NGS

F

Failure of tooth eruption, primary PTH1R
Del Dup
NGS
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel FGFR1, FGFR2, FGFR3
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel FGFR1, FGFR2, FGFR3, TWIST1
Sanger
FGFR2 related craniosynostosis FGFR2
Del Dup
NGS
Fibrillinopathy NGS panel CBS, FBN1, FBN2
Del Dup
NGS
Fibrochondrogenesis 1 COL11A1
Del Dup
NGS
Fibrochondrogenesis 2 COL11A2
Del Dup
NGS
Fibrochondrogenesis NGS panel COL11A1, COL11A2
Del Dup
NGS
Fibrodysplasia ossificans progressiva ACVR1
Del Dup
NGS
Fibular hypoplasia and complex brachydactyly GDF5
Del Dup
NGS
Focal dermal hypoplasia PORCN
Del Dup
NGS
Frontometaphyseal dysplasia FLNA
Del Dup
NGS
Frontometaphyseal dysplasia NGS panel FLNA, MAP3K7, TAB2
Del Dup
NGS
Frontonasal dysplasia 1 ALX3
Sanger
Del Dup
Frontonasal dysplasia 2 ALX4
Sanger
Del Dup
Frontonasal dysplasia 3 ALX1
Sanger
Del Dup
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel ALX1, ALX3, ALX4, EFNB1, SIX2
Del Dup
NGS
Frontonasal dysplasia, SIX2 related SIX2
Sanger
Del Dup

G

Geleophysic dysplasia 1 ADAMTSL2
Del Dup
NGS
Geleophysic dysplasia 2 FBN1
Sanger
Genitopatellar syndrome KAT6B
Del Dup
NGS
Glass syndrome SATB2
Del Dup
NGS
Glomuvenous malformations GLMN
Del Dup
NGS
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel GLMN, TEK
Del Dup
NGS
Gnathodiaphyseal dysplasia ANO5
Del Dup
NGS
Gracile bone dysplasia FAM111A
Del Dup
NGS
Greig cephalopolysyndactyly syndrome GLI3
Del Dup
NGS

H

Hajdu-Cheney syndrome NOTCH2
Del Dup
NGS
Hereditary Hemorrhagic telangiectasia NGS panel ACVRL1, ENG, GDF2, RASA1, SMAD4
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 2 ACVRL1
Sanger
Del Dup
Hereditary hemorrhagic telangiectasia type 5 GDF2
Sanger
Del Dup
Hereditary motor and sensory neuropathy, type IIC TRPV4
Del Dup
NGS
Homocystinuria CBS
Del Dup
NGS
Hyperostosis corticalis generalisata (Van Buchem disease) SOST
Sanger
Del Dup
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
Del Dup
NGS
Hyperparathyroidism, neonatal severe CASR
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis - FGF23 FGF23
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis - GALNT3 GALNT3
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis NGS panel FGF23, GALNT3, KL
Del Dup
NGS
Hypocalcemia, autosomal dominant 1 CASR
Sanger
Del Dup
Hypocalciuric hypercalcemia, familial, type 1 CASR
Sanger
Del Dup
Hypophosphatasia, infantile, childhood & adult types ALPL
Sanger
Del Dup
Hypotrichosis NGS panel APCDD1, CDSN, DSG4, HR, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
Del Dup
NGS

I

Ichthyosis NGS panel ABCA12, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, 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 IGF1, IGF1R
Del Dup
NGS
Insulin-like growth factor I, resistance to IGF1R
Del Dup
NGS

J

Jackson-Weiss syndrome FGFR2
Sanger
Joubert syndrome and related disorders NGS panel 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
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4
Sanger
Del Dup

K

KBG syndrome ANKRD11
Del Dup
NGS
Kenny-Caffey syndrome NGS panel FAM111A, TBCE
Del Dup
NGS
Kenny-Caffey syndrome, type 1 TBCE
Del Dup
NGS
Kenny-Caffey syndrome, type 2 FAM111A
Del Dup
NGS
Klippel-Feil Syndrome 1 GDF6
Sanger
Del Dup
Klippel-Feil syndrome 2 MEOX1
Sanger
Del Dup
Klippel-Feil syndrome 3 GDF3
Sanger
Del Dup
Klippel-Feil syndrome NGS panel GDF3, GDF6, MEOX1, MYO18B, RIPPLY2
Del Dup
NGS
Klippel-Feil syndrome, RIPPLY2 related RIPPLY2
Sanger
Del Dup
Kniest dysplasia COL2A1
Del Dup
NGS
Knobloch syndrome 1 COL18A1
Del Dup
NGS
Known familial mutation - One mutation
Sanger
Known familial mutations - Four mutations
Sanger
Known familial mutations - Three mutations
Sanger
Known familial mutations - Two mutations
Sanger

L

Langer mesomelic dysplasia SHOX
Sanger
Del Dup
Larsen syndrome, autosomal dominant FLNB
Sanger
Del Dup
NGS
Larsen syndrome, autosomal recessive CHST3
Del Dup
NGS
Lateral meningocele syndrome NOTCH3
Del Dup
NGS
Leber congenital amaurosis and related disorders NGS panel AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
Del Dup
NGS
Leri-Weill dyschondrosteosis SHOX
Sanger
Del Dup
Lethal congenital contractual syndrome and related disorders NGS Panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel 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 1 TGFBR1
Sanger
Del Dup
Loeys-Dietz syndrome 2 TGFBR2
Sanger
Del Dup
Loeys-Dietz syndrome 3 SMAD3
Sanger
Del Dup
Loeys-Dietz syndrome 4 TGFB2
Sanger
Del Dup
Loeys-Dietz Syndrome 5 TGFB3
Sanger
Del Dup
Loeys-Dietz syndrome core NGS panel TGFBR1, TGFBR2
Del Dup
NGS
Loeys-Dietz syndrome NGS panel SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Long QT syndrome NGS panel AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN
Del Dup
NGS
Lysosomal acid lipase deficiency LIPA
Sanger
Del Dup

M

Mandibulofacial dysostosis and related disorders NGS panel DHODH, EFTUD2, POLR1A, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A
Del Dup
NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, type I FBN1
Del Dup
NGS
Marfan syndrome, type I / II NGS panel FBN1, TGFBR2
Del Dup
NGS
Marfan syndrome, type II TGFBR2
Sanger
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 CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6
Del Dup
NGS
Melnick-Needles syndrome FLNA
Del Dup
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 MMP13, MMP9
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
Del Dup
NGS
Metaphyseal chondrodysplasia, Schmid type COL10A1
Sanger
Del Dup
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
Del Dup
NGS
Metaphyseal dysplasia without hypotrichosis RMRP
Sanger
Del Dup
Metaphyseal dysplasia, Spahr type MMP13
Del Dup
NGS
Metatropic dysplasia TRPV4
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel 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 ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH
Del Dup
NGS
Muenke syndrome FGFR3
Sanger
Multiple epiphyseal dysplasia COMP
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Del Dup
NGS
Multiple exostoses NGS panel EXT1, EXT2
Del Dup
NGS
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Del Dup
NGS
Multiple pterygium syndrome, lethal type & Escobar variant CHRNG
Del Dup
NGS
Multiple pterygium syndrome, lethal type - CHRNA1 CHRNA1
Del Dup
NGS
Multiple pterygium syndrome, lethal type - CHRND CHRND
Del Dup
NGS
Multiple pterygium syndrome, lethal type NGS panel CHRNA1, CHRND, CHRNG
Del Dup
NGS
Multiple self-healing squamous epithelioma TGFBR1
Sanger
Del Dup
Myhre syndrome SMAD4
Sanger
Del Dup
Myofibrillar myopathy and related disorders NGS panel ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Del Dup
NGS

N

Nail-patella syndrome LMX1B
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel 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 PHGDH, PSAT1
Del Dup
NGS
Neurofibromatosis and related disorders NGS panel MLH1, MSH2, MSH6, NF1, NF2, SPRED1
Del Dup
NGS
Neurofibromatosis type I NF1
Del Dup
NGS
Neutropenia, severe congenital, X-linked WAS
Sanger
Del Dup
Next Generation Sequencing (Any of the NGS panel Genes)
NGS
NKX2-5 related heart malformations NKX2-5
Sanger
Del Dup
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Norrie disease NDP
Sanger
Del Dup

O

Occipital horn syndrome ATP7A
Del Dup
NGS
Oculodentodigital dysplasia GJA1
Sanger
Del Dup
Odontoonychodermal dysplasia WNT10A
Sanger
Del Dup
Ohdo syndrome, SBBYS variant KAT6B
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel 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 COL1A1, COL1A2
Del Dup
NGS
Osteogenesis imperfecta core NGS panel COL1A1, COL1A2, IFITM5
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive 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 IX PPIB
Sanger
Del Dup
Osteogenesis imperfecta, type V IFITM5
Sanger
Del Dup
Osteogenesis imperfecta, type VI SERPINF1
Sanger
Del Dup
Osteogenesis imperfecta, type VII CRTAP
Sanger
Del Dup
Osteogenesis imperfecta, type VIII P3H1
Del Dup
NGS
Osteogenesis imperfecta, type X SERPINH1
Sanger
Del Dup
Osteogenesis imperfecta, type XI FKBP10
Sanger
Del Dup
Osteogenesis imperfecta, type XII SP7
Sanger
Del Dup
Osteogenesis imperfecta, type XIII BMP1
Del Dup
NGS
Osteogenesis imperfecta, type XVI CREB3L1
Del Dup
NGS
Osteogenesis imperfecta, type XVII SPARC
Sanger
Del Dup
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 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 CLCN7, OSTM1, TCIRG1
Del Dup
NGS
Osteopetrosis NGS panel AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
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
Del Dup
NGS
Otospondylomegaepiphyseal dysplasia COL11A2
Del Dup
NGS
Overgrowth syndrome NGS panel EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS

P

Paget disease of bone 2 TNFRSF11A
Del Dup
NGS
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 HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Pallister-Hall syndrome GLI3
Del Dup
NGS
Parastremmatic dwarfism TRPV4
Del Dup
NGS
Parkes Weber syndrome RASA1
Del Dup
NGS
Periventricular nodular heterotopia 1 FLNA
Del Dup
NGS
Pfeiffer syndrome FGFR1, FGFR2
Sanger
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Platelet bleeding disorders NGS panel 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
Sanger
Del Dup
NGS
Pneumothorax, primary spontaneous FLCN
Del Dup
NGS
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Popliteal pterygium syndrome IRF6
Del Dup
NGS
Popliteal pterygium syndrome, lethal type RIPK4
Sanger
Del Dup
Porencephaly 1 COL4A1
Del Dup
NGS
Porencephaly 2 COL4A2
Del Dup
NGS
Porencephaly NGS panel COL4A1, COL4A2
Del Dup
NGS
Postaxial acrofacial dysostosis DHODH
Del Dup
NGS
Progressive familial heart block type I NGS panel SCN5A, TRPM4
Del Dup
NGS
Progressive pseudorheumatoid arthropathy of childhood WISP3
Sanger
Del Dup
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome FLVCR2
Del Dup
NGS
Pseudoachondroplasia COMP
Del Dup
NGS
Pseudoxanthoma elasticum ABCC6
Del Dup
NGS
Pseudoxanthoma elasticum NGS panel ABCC6, GGCX
Del Dup
NGS
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
Del Dup
NGS
Pulmonary hypertension NGS panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, KCNK3, SMAD9
Del Dup
NGS
Pulmonary hypertension, primary, 1 BMPR2
Del Dup
NGS
Pulmonary hypertension, primary, 2 SMAD9
Sanger
Del Dup
Pulmonary hypertension, primary, 3 CAV1
Sanger
Del Dup
Pulmonary hypertension, primary, 4 KCNK3
Sanger
Del Dup
Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
Del Dup
NGS
Pulmonary venoocclusive disease 2, autosomal recessive EIF2AK4
Del Dup
NGS
Pycnodysostosis CTSK
Sanger
Del Dup

R

Rhizomelic chondrodysplasia punctata type 1 PEX7
Sanger
Del Dup
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 3 AGPS
Del Dup
NGS
Rickets, hypophosphatemic, autosomal dominant FGF23
Sanger
Del Dup
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
Roberts syndrome & SC phocomelia syndrome ESCO2
Del Dup
NGS
Robinow syndrome NGS panel DVL1, DVL3, ROR2, WNT5A
Del Dup
NGS
Robinow syndrome, autosomal dominant 1 WNT5A
Sanger
Del Dup
Robinow syndrome, autosomal dominant 2 DVL1
Del Dup
NGS
Robinow syndrome, autosomal recessive ROR2
Sanger
Del Dup
Rubinstein-Taybi syndrome 1 CREBBP
Del Dup
NGS
Rubinstein-Taybi syndrome 2 EP300
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel CREBBP, EP300
Del Dup
NGS

S

Saethre-Chotzen syndrome FGFR3, TWIST1
Sanger
Del Dup
Scapuloperoneal spinal muscular atrophy TRPV4
Del Dup
NGS
Schneckenbecken dysplasia, INPPL1 related INPPL1
Del Dup
NGS
Schopf-Schulz-Passarge syndrome WNT10A
Sanger
Del Dup
Schwartz-Jampel syndrome, type 1 HSPG2
Del Dup
NGS
Sclerosteosis SOST
Sanger
Del Dup
Serpentine fibula-polycystic kidney syndrome NOTCH2
Del Dup
NGS
Severe achondroplasia with developmental delay and acanthosis nigricans FGFR3
Sanger
Short QT syndrome NGS panel CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
Del Dup
NGS
Short stature, idiopathic, X-linked SHOX
Sanger
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
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
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
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
Sanger
Del Dup
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel 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 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 ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
Del Dup
NGS
Skeletal dysplasia extended NGS panel 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 DYM, RAB33B
Del Dup
NGS
Snyder-Robinson mental retardation syndrome SMS
Sanger
Del Dup
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 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
Del Dup
NGS
Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2
Sanger
Del Dup
Spondylocarpotarsal synostosis syndrome FLNB
Del Dup
NGS
Spondylocostal dysostosis 1, autosomal recessive DLL3
Sanger
Del Dup
Spondylocostal dysostosis 2, autosomal recessive MESP2
Sanger
Del Dup
Spondylocostal dysostosis 3, autosomal recessive LFNG
Sanger
Del Dup
Spondylocostal dysostosis 4, autosomal recessive HES7
Sanger
Del Dup
Spondylocostal dysostosis 5, autosomal dominant TBX6
Sanger
Del Dup
Spondylocostal dysostosis 6, autosomal recessive RIPPLY2
Sanger
Del Dup
Spondylocostal dysostosis NGS panel DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
Del Dup
NGS
Spondyloenchondrodysplasia with immune dysregulation ACP5
Sanger
Del Dup
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel B3GALT6, KIF22
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
Sanger
Del Dup
NGS
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 tarda, X-linked TRAPPC2
Sanger
Del Dup
Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
Del Dup
NGS
Spondyloepiphyseal dysplasia, Maroteaux type TRPV4
Del Dup
NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy PCYT1A
Sanger
Del Dup
Spondylometaphyseal dysplasia, Kozlowski type TRPV4
Del Dup
NGS
Spondyloocular syndrome XYLT2
Del Dup
NGS
Spondyloperipheral dysplasia COL2A1
Sanger
Del Dup
NGS
Steel syndrome COL27A1
Del Dup
NGS
Stickler syndrome core NGS panel COL11A1, COL11A2, COL2A1
Del Dup
NGS
Stickler syndrome NGS panel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
Del Dup
NGS
Stickler syndrome NGS panel - Recessive 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
Stiff skin syndrome FBN1
Del Dup
NGS
Stuve-Wiedemann syndrome LIFR
Del Dup
NGS
Supravalvular aortic stenosis ELN
Del Dup
NGS

T

Terminal osseous dysplasia FLNA
Del Dup
NGS
Thanatophoric dysplasia, type I / II FGFR3
Sanger
Del Dup
NGS
Three M syndrome 1 CUL7
Del Dup
NGS
Three M syndrome 2 OBSL1
Del Dup
NGS
Three M syndrome 3 CCDC8
Sanger
Del Dup
Three M syndrome NGS panel CCDC8, CUL7, OBSL1
Del Dup
NGS
Thrombocytopenia 1 WAS
Sanger
Del Dup
Thrombocytopenia and absent radius syndrome RBM8A
Sanger
Del Dup
Thrombocytopenia NGS Panel 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
Tooth agenesis, selective 4 WNT10A
Sanger
Del Dup
Tooth agenesis, selective, 1 MSX1
Sanger
Del Dup
Torg-Winchester syndrome MMP2
Del Dup
NGS
Treacher Collins syndrome 1 TCOF1
Del Dup
NGS
Treacher Collins syndrome 2 POLR1D
Sanger
Del Dup
Treacher Collins syndrome 3 POLR1C
Sanger
Del Dup
Treacher Collins syndrome core NGS panel POLR1C, POLR1D, TCOF1
Del Dup
NGS
Trichodentoosseus syndrome DLX3
Sanger
Del Dup
Trichorhinophalangeal syndrome, type I / III TRPS1
Del Dup
NGS

V

Van Buchem disease, type 2 LRP5
Del Dup
NGS
Van der Woude syndrome 1 IRF6
Del Dup
NGS
Van der Woude syndrome 2 GRHL3
Del Dup
NGS
Van der Woude syndrome NGS panel GRHL3, IRF6
Del Dup
NGS
Van Maldergem syndrome 1 DCHS1
Del Dup
NGS
Vascular malformations NGS panel 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 BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408
Del Dup
NGS

W

Waardenburg syndrome NGS panel EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Del Dup
NGS
Wagner vitreoretinopathy VCAN
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel 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 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
Wiskott-Aldrich syndrome WAS
Sanger
Del Dup
Witkop syndrome MSX1
Sanger
Del Dup
Wolcott-Rallison syndrome EIF2AK3
Del Dup
NGS
Wolman disease LIPA
Sanger
Del Dup

Z

Zimmermann-Laband syndrome 1 KCNH1
Del Dup
NGS
Zimmermann-Laband syndrome 2 ATP6V1B2
Del Dup
NGS
Zimmermann-Laband syndrome NGS panel ATP6V1B2, KCNH1
Del Dup
NGS

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