Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Acromesomelic dysplasia, Maroteaux type NPR2
Del Dup
NGS
Axial spondylometaphyseal dysplasia NGS panel C21orf2, NEK1
Del Dup
NGS
Chondrodysplasia, Grebe type GDF5
Del Dup
NGS
Cleidocranial dysplasia RUNX2
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Diaphanospondylodysostosis BMPER
Del Dup
NGS
Exostoses, multiple, type I EXT1
Del Dup
NGS
Exostoses, multiple, type II EXT2
Del Dup
NGS
Fibrodysplasia ossificans progressiva ACVR1
Del Dup
NGS
Fibular hypoplasia and complex brachydactyly GDF5
Del Dup
NGS
Gracile bone dysplasia FAM111A
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
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
Larsen syndrome, autosomal dominant FLNB
Sanger
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Meier-Gorlin syndrome NGS panel CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6
Del Dup
NGS
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
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
Mowat-Wilson syndrome ZEB2
Del Dup
NGS
Multiple exostoses NGS panel EXT1, EXT2
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
Omodysplasia 1 GPC6
Del Dup
NGS
Osteopetrosis, autosomal recessive 6 PLEKHM1
Del Dup
NGS
Overgrowth syndrome NGS panel EED, EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Robinow syndrome, autosomal dominant 2 DVL1
Sanger
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
Smith-Lemli-Opitz syndrome DHCR7
Del Dup
NGS
Smith-McCort dysplasia NGS panel DYM, RAB33B
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
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked TRAPPC2
Sanger
Del Dup
Spondyloocular syndrome XYLT2
Del Dup
NGS
Stiff skin syndrome FBN1
Sanger
Del Dup
NGS
Torg-Winchester syndrome MMP2
Del Dup
NGS
Trichorhinophalangeal syndrome, type I / III TRPS1
Del Dup
NGS
Weaver and Cohen-Gibson syndrome NGS panel EED, EZH2
Del Dup
NGS

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