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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B

B3GALT6
Desbuquois dysplasia and related disorders NGS panel	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel	NGS Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type, 2	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel	NGS Del Dup
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	Del Dup NGS

B4GALT7
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel	NGS Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type, 1	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 panel	NGS Del Dup
Myofibrillar myopathy and related disorders NGS panel	NGS Del Dup

BEST1
Vitreoretinopathy NGS panel	NGS Del Dup

BGN
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

BICC1
Polycystic kidney disease and related disorders NGS panel	Del Dup NGS

BICD2
Distal hereditary motor neuropathy and related disorders NGS panel	NGS Del Dup

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	NGS Del Dup
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	Del Dup NGS
Vascular malformations NGS panel	Del Dup NGS

BRAF
Noonan spectrum disorder NGS panel	NGS Del Dup
Noonan syndrome core NGS panel	Del Dup NGS

BSCL2
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS
Distal hereditary motor neuropathy and related disorders NGS panel	NGS Del Dup

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