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

B3GALT6
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 2
NGS
Ehlers-Danlos syndrome, progeroid type, NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
NGS
Del Dup
B3GAT3
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
B4GALT7
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, NGS panel
NGS
Del Dup
B9D1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
B9D2
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
BAG3
Distal Myopathy
NGS
Del Dup
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup
BEST1
Vitreoretinopathy NGS panel
NGS
Del Dup
BGN
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
BICD2
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
BLOC1S3
Platelet bleeding disorders NGS panel
NGS
Del Dup
BLOC1S6
Platelet bleeding disorders NGS panel
Del Dup
NGS
BMP1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type XIII
Del Dup
NGS
BMPER
Diaphanospondylodysostosis
NGS
Del Dup
BMPR1B
Pulmonary hypertension NGS panel
Del Dup
NGS
BMPR2
Pulmonary hypertension NGS panel
Del Dup
NGS
Pulmonary hypertension, primary, 1
NGS
Del Dup
Pulmonary venoocclusive disease 1, autosomal dominant
NGS
Del Dup
Vascular malformations NGS panel
Del Dup
NGS
BRAF
Noonan spectrum disorder NGS panel
NGS
Del Dup
BSCL2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup

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