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

IDS
Mucopolysaccharidosis NGS panel
NGS
Del Dup
IDUA
Mucopolysaccharidosis NGS panel
Del Dup
NGS
IFITM5
Osteogenesis imperfecta core NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta, type V
Sanger
Del Dup
IFT122
Craniosynostosis NGS panel
NGS
Del Dup
Skeletal dysplasia ciliopathy NGS panel
NGS
Del Dup
IFT140
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
IFT172
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
IFT43
Craniosynostosis NGS panel
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
IFT52
Skeletal dysplasia ciliopathy NGS panel
NGS
Del Dup
IFT80
Short-rib thoracic dysplasia 2 with or without polydactyly
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
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
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
NGS
Del Dup
IGHMBP2
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
IHH
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
IL11RA
Craniosynostosis NGS panel
Del Dup
NGS
IMPAD1
Chondrodysplasia with joint dislocations, GPAPP type
Sanger
Del Dup
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
INF2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
INPP5E
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
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
IRF6
Popliteal pterygium syndrome
Sanger
Del Dup
Van der Woude syndrome 1
Sanger
Del Dup
Van der Woude syndrome 1 / 2
Sanger
Del Dup
ISPD
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
ITGA2B
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
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
NGS
Del Dup
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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