Test Catalogue by Gene | Connective Tissue Gene Tests

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

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I

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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