|
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 |
