Achondrogenesis NGS panel COL2A1, SLC26A2, TRIP11
Del Dup
NGS
Adams-Oliver syndrome 6 DLL4
Sanger
Del Dup
Alport syndrome NGS panel COL4A3, COL4A4, COL4A5, COL4A6
Del Dup
NGS
Alport syndrome, X-linked COL4A5
Del Dup
NGS
Atelosteogenesis, type I / III FLNB
Sanger
Del Dup
NGS
Atypical hemolytic uremic syndrome and related disorders NGS panel ADAMTSL13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, THBD
Del Dup
NGS
Boomerang dysplasia FLNB
Sanger
Del Dup
NGS
Cardiac valvular dysplasia, X-linked FLNA
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
Deletion / Duplication test (Any of the NGS panel genes)
Del Dup
Ehlers-Danlos syndrome, type I / II COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome, type IV COL3A1
Del Dup
NGS
Ellis-van Creveld syndrome EVC, EVC2
Del Dup
NGS
Fanconi anemia NGS panel BRACA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, RAD51C, SLX4, UBE2T
Del Dup
NGS
Fibrochondrogenesis 1 / 2 COL11A1, COL11A2
Del Dup
NGS
Frontometaphyseal dysplasia FLNA
NGS
Hyperphosphatemic familial tumoral calcinosis FGF23, GALNT3
Sanger
Hyperphosphatemic familial tumoral calcinosis - FGF23 FGF23
Sanger
Del Dup
Hyperphosphatemic familial tumoral calcinosis - GALNT3 GALNT3
Sanger
Larsen syndrome, autosomal dominant FLNB
Sanger
Del Dup
NGS
Loeys-Dietz syndrome 1 / 2 / 3 / 4 / 5 SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome 1 / 2 FBN1, TGFBR1, TGFBR2
Del Dup
NGS
Melnick-Needles syndrome FLNA
NGS
Osteogenesis imperfecta core NGS panel COL1A1, COL1A2
Del Dup
NGS
Osteopetrosis, autosomal recessive 1, 4, 5 CLCN7, OSTM1, TCIRG1
Del Dup
NGS
Otopalatodigital syndrome, type I / II FLNA
NGS
Paget disease of bone 2 TNFRSF11A
Sanger
Del Dup
Paget disease of bone 2 / 3 / 5 / 6 SQSTM1, TNFRSF11A, TNFRSF11B, ZNF687
Sanger
Paget disease of bone 3 SQSTM1
Sanger
Paget disease of bone 5 TNFRSF11B
Sanger
Del Dup
Periventricular nodular heterotopia 1, FLNA
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, RASGRP2, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Del Dup
NGS
Rickets, hypophosphatemic, autosomal dominant FGF23
Sanger
Simpson-Golabi-Behmel syndrome, PIGA related PIGA
Sanger
Spondylocarpotarsal synostosis syndrome FLNB
Del Dup
NGS
Steel syndrome COL27A1
Sanger
Stickler syndrome core NGS panel COL11A1, COL11A2, COL2A1
Del Dup
NGS
Stickler syndrome NGS panel - Recessive COL9A1, COL9A2, COL9A3
Del Dup
NGS
Terminal osseous dysplasia FLNA
NGS

Search Tests

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