Test Catalogue by Gene

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

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B3GALNT2
Lissencephaly and related disorders NGS panel
Del Dup
NGS
B3GALT6
Connective tissue disorder NGS panel
Del Dup
NGS
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
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
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
Connective tissue disorder NGS panel
NGS
Del Dup
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
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
B4GAT1
Lissencephaly and related disorders NGS panel
Del Dup
NGS
B9D1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
B9D2
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
BAG3
Distal Myopathy NGS panel
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel
Del Dup
NGS
BANF1
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
BCKDHA
Common Carrier Screening Panel
Comp
Extended Carrier Screening panel
Comp
BCKDHB
Extended Carrier Screening panel
Comp
BEST1
Vitreoretinopathy NGS panel
Del Dup
NGS
BGN
Connective tissue disorder NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
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
BLM
Common Carrier Screening Panel
Comp
Extended Carrier Screening panel
Comp
BLOC1S3
Platelet bleeding disorders NGS panel
Del Dup
NGS
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
BMP2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
NGS
Del Dup
BMP4
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
BMPER
Diaphanospondylodysostosis
NGS
Del Dup
BMPR1B
Pulmonary hypertension NGS panel
Del Dup
NGS
BMPR2
Pulmonary hypertension NGS panel
NGS
Del Dup
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
Noonan syndrome core NGS panel
Del Dup
NGS
BSCL2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
BSND
Bartter syndrome and related disorders NGS panel
NGS
Del Dup
BTD
Extended Carrier Screening panel
Comp
BTK
Short stature with endocrinopathy NGS panel
NGS
Del Dup

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