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

IDS
Mucopolysaccharidosis NGS panel	Del Dup NGS

IDUA
Mucopolysaccharidosis NGS panel	Del Dup NGS

IFITM5
Osteogenesis imperfecta core NGS panel	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive	NGS Del Dup
Osteogenesis imperfecta, type V	Del Dup Sanger

IFT122
Craniosynostosis NGS panel	Del Dup NGS
Skeletal dysplasia ciliopathy NGS panel	Del Dup NGS

IFT140
Skeletal dysplasia ciliopathy NGS panel	NGS Del Dup

IFT172
Skeletal dysplasia ciliopathy NGS panel	Del Dup NGS

IFT43
Craniosynostosis NGS panel	Del Dup NGS
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

IGF1
Insulin-like growth factor I deficiency	Sanger Del Dup
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to	Sanger Del Dup

IGF1R
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to	Sanger Del Dup
Insulin-like growth factor I, resistance to	Sanger Del Dup

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	NGS Del Dup

IMPAD1
Chondrodysplasia with joint dislocations, GPAPP type	Del Dup Sanger
Desbuquois dysplasia and related disorders NGS panel	Del Dup NGS
Desbuquois dysplasia core NGS panel	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

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	NGS Del Dup
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia core NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup

IRF6
Popliteal pterygium syndrome	Sanger Del Dup
Van der Woude syndrome 1	Del Dup Sanger
Van der Woude syndrome 1 / 2	Del Dup Sanger

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	Del Dup NGS

ITGA6
Epidermolysis bullosa NGS panel	Del Dup NGS

ITGB3
Platelet bleeding disorders NGS panel	Del Dup NGS
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	NGS Del Dup

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