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	NGS Del Dup

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	Del Dup Sanger

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

IFT140
Skeletal dysplasia ciliopathy NGS panel	Del Dup NGS

IFT172
Skeletal dysplasia ciliopathy NGS panel	NGS Del Dup

IFT43
Craniosynostosis NGS panel	NGS Del Dup
Skeletal dysplasia ciliopathy NGS panel	NGS Del Dup

IFT80
Short-rib thoracic dysplasia 2 with or without polydactyly	NGS Del Dup
Skeletal dysplasia ciliopathy NGS panel	Del Dup NGS

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

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	Del Dup NGS

IHH
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

IL11RA
Craniosynostosis NGS panel	NGS Del Dup

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

INF2
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

INPP5E
Joubert syndrome and related disorders NGS panel	Del Dup NGS

INPPL1
Opsismodysplasia	NGS Del Dup
Schneckenbecken dysplasia, INPPL1 related	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia core NGS panel	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

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

ISPD
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

ITGA2B
Platelet bleeding disorders NGS panel	NGS Del Dup
Thrombocytopenia NGS Panel	NGS Del Dup

ITGA3
Epidermolysis bullosa NGS panel	Del Dup NGS
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	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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