Achondrogenesis, type IA TRIP11
Del Dup
NGS
Adams-Oliver Syndrome 1 ARHGAP31
Del Dup
NGS
Adams-Oliver syndrome 3 RBPJ
Del Dup
NGS
Adams-Oliver syndrome 4 EOGT
Del Dup
NGS
Adams-Oliver syndrome 6 DLL4
Del Dup
NGS
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
Aortic aneurysm, familial thoracic 8 PRKG1
Del Dup
NGS
Bent bone dysplasia syndrome FGFR2
Sanger
Del Dup
NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel COL12A1, COL6A1, COL6A2, COL6A3
Del Dup
NGS
Brachyolmia type 3 TRPV4
Del Dup
NGS
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
Buschke-Ollendorff syndrome LEMD3
Del Dup
NGS
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
Del Dup
NGS
Catel-Manzke syndrome TGDS
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
Chondrodysplasia punctata 1, X-linked recessive ARSE
Del Dup
NGS
Chondrodysplasia punctata 2, X-linked dominant EBP
Del Dup
NGS
Chondrodysplasia, Blomstrand type PTH1R
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
Craniometaphyseal dysplasia, autosomal dominant ANKH
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 IIIA ALDH18A1
Del Dup
NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB PYCR1
Del Dup
NGS
Desbuquois dysplasia 1 CANT1
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Digital arthropathy-brachydactyly, familial TRPV4
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
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, periodontal type NGS panel C1R, C1S
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 B4GALT7
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 / 2 B3GALT6, B4GALT7
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 2 B3GALT6
NGS
Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
Del Dup
NGS
Eiken syndrome PTH1R
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
Exudative vitreoretinopathy 5 TSPAN12
Del Dup
NGS
Failure of tooth eruption, primary PTH1R
Del Dup
NGS
FGFR2 related craniosynostosis FGFR2
Del Dup
NGS
Gnathodiaphyseal dysplasia ANO5
Del Dup
NGS
Greig cephalopolysyndactyly syndrome GLI3
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
Ichthyosis NGS panel - Nonsyndromic 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
Larsen syndrome, autosomal recessive CHST3
Del Dup
NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
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
Metaphyseal anadysplasia 1 MMP13
Del Dup
NGS
Metaphyseal anadysplasia 2 MMP9
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
Del Dup
NGS
Metaphyseal dysplasia, Spahr type MMP13
Del Dup
NGS
Metatropic dysplasia TRPV4
Del Dup
NGS
Mucopolysaccharidosis NGS panel ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH
Del Dup
NGS
Multiple epiphyseal dysplasia COMP
Sanger
Del Dup
NGS
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Del Dup
NGS
Opsismodysplasia INPPL1
Del Dup
NGS
Osteogenesis imperfecta COL1A1 & COL1A2 panel COL1A1, COL1A2
Del Dup
NGS
Osteogenesis imperfecta, PLS3 related PLS3
Del Dup
NGS
Osteogenesis imperfecta, type VIII P3H1
Del Dup
NGS
Osteogenesis imperfecta, type XIII BMP1
Del Dup
NGS
Osteogenesis imperfecta, type XVI CREB3L1
Del Dup
NGS
Osteopathia striata with cranial sclerosis AMER1
Del Dup
NGS
Osteopetrosis with renal tubular acidosis 3 CA2
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
NGS
Osteopetrosis, autosomal recessive 7 TNFRSF11A
Del Dup
NGS
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
Pallister-Hall syndrome GLI3
Del Dup
NGS
Parastremmatic dwarfism TRPV4
Del Dup
NGS
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Pseudoachondroplasia COMP
Sanger
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 3 AGPS
Del Dup
NGS
Rickets, hypophosphatemic, autosomal recessive, 1 DMP1
Del Dup
NGS
Rickets, vitamin D-dependent type I CYP27B1
Del Dup
NGS
Scapuloperoneal spinal muscular atrophy TRPV4
Del Dup
NGS
Schneckenbecken dysplasia, INPPL1 related INPPL1
Del Dup
NGS
Shprintzen-Goldberg craniosynostosis syndrome SKI
Del Dup
NGS
Simpson-Golabi-Behmel syndrome GPC3
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Sanger
Del Dup
Snyder-Robinson mental retardation syndrome SMS
Sanger
Del Dup
Sotos syndrome 2 NFIX
Del Dup
NGS
Spinal muscular atrophy, distal, congenital nonprogressive TRPV4
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel B3GALT6, KIF22
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
NGS
Spondyloepimetaphyseal dysplasia, Missouri type MMP13
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked TRAPPC2
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
Stuve-Wiedemann syndrome LIFR
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
Treacher Collins syndrome 1 TCOF1
Del Dup
NGS
Waardenburg syndrome NGS panel EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Del Dup
NGS
Weill-Marchesani syndrome 1 ADAMTS10
Del Dup
NGS
Weill-Marchesani syndrome 3 LTBP2
Del Dup
NGS
Weill-Marchesani-like syndrome ADAMTS17
Del Dup
NGS

Search Tests

TIP: enter a partial disorder name or gene to widen your search