Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.

ICK
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
IDS
Mucopolysaccharidosis NGS panel
Del Dup
NGS
IDUA
Mucopolysaccharidosis NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
IFITM5
Osteogenesis imperfecta core NGS panel
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta, type V
Sanger
Del Dup
NGS
IFT122
Craniosynostosis NGS panel
NGS
Del Dup
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
IFT140
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
IFT172
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
IFT43
Craniosynostosis NGS panel
Del Dup
NGS
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
IFT52
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
IFT80
Short-rib thoracic dysplasia 2 with or without polydactyly
Del Dup
NGS
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
IFT81
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
IGF1
Insulin-like growth factor I deficiency
NGS
Del Dup
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel
NGS
Del Dup
Short stature with endocrinopathy NGS panel
Del Dup
NGS
IGF1R
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to NGS panel
Del Dup
NGS
Insulin-like growth factor I, resistance to
Del Dup
NGS
Short stature with endocrinopathy NGS panel
Del Dup
NGS
IGHMBP2
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
IHH
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
IL11RA
Craniosynostosis NGS panel
Del Dup
NGS
IMPAD1
Chondrodysplasia with joint dislocations, GPAPP type
Del Dup
NGS
Sanger
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Desbuquois dysplasia core NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
IMPDH1
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
INF2
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
INPP5E
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
INPPL1
Opsismodysplasia
NGS
Del Dup
Schneckenbecken dysplasia, INPPL1 related
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
INVS
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
IQCB1
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
Nephronophthisis and related disorders NGS panel
NGS
Del Dup
IRF6
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
Popliteal pterygium syndrome
Del Dup
NGS
Popliteal pterygium syndrome NGS panel
Del Dup
NGS
Van der Woude syndrome 1
NGS
Del Dup
Van der Woude syndrome NGS panel
NGS
Del Dup
ISPD
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Lissencephaly and related disorders NGS panel
NGS
Del Dup
ITGA2B
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
NGS
Del Dup
ITGA3
Epidermolysis bullosa NGS panel
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
ITGA6
Epidermolysis bullosa NGS panel
NGS
Del Dup
ITGB3
Platelet bleeding disorders NGS panel
NGS
Del Dup
Thrombocytopenia NGS Panel
NGS
Del Dup
ITGB4
Epidermolysis bullosa NGS panel
NGS
Del Dup
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
ITGB6
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS

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