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

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

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