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

B3GALNT2
Lissencephaly and related disorders NGS panel	NGS Del Dup

B3GALT6
Connective tissue disorder NGS panel	NGS Del Dup
Desbuquois dysplasia and related disorders NGS panel	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive	NGS Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel	Del Dup NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 2	Del Dup NGS
Progeroid syndromes and related disorders 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	Del Dup NGS

B3GALT7
Connective tissue disorder NGS panel	Del Dup NGS

B3GAT3
Desbuquois dysplasia and related disorders NGS panel	NGS Del Dup
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

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

B4GAT1
Lissencephaly and related disorders 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 panel	NGS Del Dup
Myofibrillar myopathy and related disorders NGS panel	NGS Del Dup

BANF1
Progeroid syndromes and related disorders NGS panel	Del Dup NGS

BEST1
Vitreoretinopathy NGS panel	NGS Del Dup

BGN
Connective tissue disorder NGS panel	Del Dup NGS
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	NGS Del Dup

BMP1
Osteogenesis imperfecta NGS panel - Dominant & Recessive	NGS Del Dup
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type XIII	NGS Del Dup

BMP2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	Del Dup NGS

BMP4
Cleft lip, cleft palate and related disorders NGS panel	NGS Del Dup

BMPER
Diaphanospondylodysostosis	Del Dup NGS

BMPR1B
Pulmonary hypertension NGS panel	Del Dup NGS

BMPR2
Pulmonary hypertension NGS panel	Del Dup NGS
Pulmonary hypertension, primary, 1	Del Dup NGS
Pulmonary venoocclusive disease 1, autosomal dominant	Del Dup NGS
Vascular malformations NGS panel	NGS Del Dup

BRAF
Noonan spectrum disorder NGS panel	Del Dup NGS
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	Del Dup NGS
Progeroid syndromes and related disorders NGS panel	Del Dup NGS

BSND
Bartter syndrome and related disorders NGS panel	NGS Del Dup

BTK
Short stature with endocrinopathy NGS panel	Del Dup NGS

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