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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TAB2
Frontometaphyseal dysplasia NGS panel	Del Dup NGS

TAPT1
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS

TARDBP
Amyotrophic lateral sclerosis and related disorders NGS panel	Del Dup NGS

TBCE
Kenny-Caffey syndrome, type 1	Del Dup Sanger
Kenny-Caffey syndrome, type 1 / 2	Sanger Del Dup

TBK1
Amyotrophic lateral sclerosis and related disorders NGS panel	NGS Del Dup

TBX1
Congenital heart disease NGS panel	NGS Del Dup

TBX20
Congenital heart disease NGS panel	Del Dup NGS

TBX5
Congenital heart disease NGS panel	NGS Del Dup

TBX6
Spondylocostal dysostosis 5, autosomal dominant	Del Dup Sanger
Spondylocostal dysostosis NGS panel	Del Dup NGS

TBXA2R
Platelet bleeding disorders NGS panel	NGS Del Dup

TBXAS1
Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Platelet bleeding disorders NGS panel	Del Dup NGS
Thrombocytopenia NGS Panel	Del Dup NGS

TCAP
Distal Myopathy	Del Dup NGS
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

TCF12
Craniosynostosis core NGS panel	NGS Del Dup
Craniosynostosis NGS panel	NGS Del Dup

TCIRG1
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis core NGS panel	Del Dup NGS
Osteopetrosis NGS panel	Del Dup NGS
Osteopetrosis, autosomal recessive 1	Del Dup NGS

TCOF1
Treacher Collins syndrome 1	NGS Del Dup
Treacher Collins syndrome and related disorders NGS panel	NGS Del Dup

TCTN1
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TCTN2
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TCTN3
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TEK
Cutaneomucosal venous malformations	NGS Del Dup
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel	Del Dup NGS
Vascular malformations NGS panel	Del Dup NGS

TERC
Dyskeratosis congenita NGS panel	NGS Del Dup

TERT
Dyskeratosis congenita NGS panel	NGS Del Dup

TFAP2A
Branchiooculofacial syndrome	Del Dup Sanger

TFG
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

TGDS
Catel-Manzke syndrome	NGS Del Dup

TGFB1
Camurati-Engelmann disease	Del Dup NGS
Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS

TGFB2
Loeys-Dietz syndrome 4	Del Dup Sanger
Loeys-Dietz syndrome NGS panel	NGS Del Dup
Marfan syndrome and Loeys-Dietz syndrome NGS panel	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible	NGS

TGFB3
Loeys-Dietz Syndrome 5	Sanger Del Dup
Loeys-Dietz syndrome NGS panel	Del Dup NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed	NGS Del Dup

TGFBR1
Aortic aneurysm, familial thoracic 5	Del Dup Sanger
Aortic aneurysm, familial thoracic 5 / 3	Sanger Del Dup
Craniosynostosis NGS panel	NGS Del Dup
Loeys-Dietz syndrome 1	Del Dup Sanger
Loeys-Dietz syndrome 1 / 2	Sanger Del Dup
Loeys-Dietz syndrome NGS panel	NGS Del Dup
Marfan syndrome and Loeys-Dietz syndrome NGS panel	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible	NGS
Multiple self-healing squamous epithelioma	Del Dup Sanger

TGFBR2
Aortic aneurysm, familial thoracic 3	Del Dup Sanger
Aortic aneurysm, familial thoracic 5 / 3	Sanger Del Dup
Craniosynostosis NGS panel	Del Dup NGS
Loeys-Dietz syndrome 1 / 2	Del Dup Sanger
Loeys-Dietz syndrome 2	Sanger Del Dup
Loeys-Dietz syndrome NGS panel	NGS Del Dup
Marfan syndrome and Loeys-Dietz syndrome NGS panel	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible	NGS
Marfan syndrome, type I / II NGS panel	NGS Del Dup
Marfan syndrome, type II	Sanger Del Dup

TGM1
Ichthyosis NGS panel - Nonsyndromic	Del Dup NGS

TGM5
Epidermolysis bullosa NGS panel	NGS Del Dup
Ichthyosis NGS panel - Nonsyndromic	NGS Del Dup

THBD
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel	Del Dup NGS

TIA1
Distal Myopathy	Del Dup NGS

TINF2
Dyskeratosis congenita NGS panel	NGS Del Dup

TJP2
Cholestasis NGS Panel	Del Dup NGS
Cholestasis, progressive familial intrahepatic, 4	Del Dup NGS

TMEM138
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TMEM216
Joubert syndrome and related disorders NGS panel	NGS Del Dup

TMEM231
Joubert syndrome and related disorders NGS panel	NGS Del Dup

TMEM237
Joubert syndrome and related disorders NGS panel	NGS Del Dup

TMEM38B
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	NGS Del Dup

TMEM67
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TNFRSF11A
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis NGS panel	NGS Del Dup
Osteopetrosis, autosomal recessive 7	NGS Del Dup
Paget disease of bone 2	Del Dup NGS
Paget disease of bone and related disorders NGS panel	Del Dup NGS

TNFRSF11B
Dense bone dysplasia NGS panel	NGS Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel	NGS Del Dup
Paget disease of bone 5	NGS Del Dup
Paget disease of bone and related disorders NGS panel	NGS Del Dup

TNFSF11
Osteopetrosis and Dense bone dysplasia NGS panel	NGS Del Dup
Osteopetrosis NGS panel	Del Dup NGS
Osteopetrosis, autosomal recessive 2	Del Dup NGS

TNNI2
Distal arthrogryposes NGS panel	NGS Del Dup

TNNT3
Distal arthrogryposes NGS panel	Del Dup NGS

TNPO3
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

TPM2
Distal arthrogryposes NGS panel	Del Dup NGS

TRAIP
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

TRAPPC11
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

TRAPPC2
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup
Spondyloepiphyseal dysplasia tarda, X-linked	Del Dup NGS

TRIM2
Charcot-Marie-Tooth disease NGS panel	NGS Del Dup

TRIM32
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

TRIP11
Achondrogenesis NGS panel	Del Dup NGS
Achondrogenesis, type IA	NGS Del Dup
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia core NGS panel	NGS Del Dup

TRPC6
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

TRPS1
Trichorhinophalangeal syndrome, type I / III	Sanger Del Dup

TRPV4
Brachyolmia type 3	Del Dup NGS
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS
Digital arthropathy-brachydactyly, familial	Del Dup NGS
Distal hereditary motor neuropathy and related disorders NGS panel	Del Dup NGS
Hereditary motor and sensory neuropathy, type IIC	Del Dup NGS
Metatropic dysplasia	Del Dup NGS
Parastremmatic dwarfism	Del Dup NGS
Scapuloperoneal spinal muscular atrophy	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia extended NGS panel	Del Dup NGS
Spinal muscular atrophy, distal, congenital nonprogressive	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS
Spondyloepiphyseal dysplasia, Maroteaux type	NGS Del Dup
Spondylometaphyseal dysplasia, Kozlowski type	NGS Del Dup

TSPAN12
Exudative vitreoretinopathy 5	NGS Del Dup
Exudative vitreoretinopathy NGS panel	NGS Del Dup
Vitreoretinopathy NGS panel	NGS Del Dup

TTC21B
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Short-rib thoracic dysplasia 4 with or without polydactyly	NGS Del Dup
Skeletal dysplasia ciliopathy NGS panel	Del Dup NGS

TTN
Distal Myopathy	NGS Del Dup
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

TUBA4A
Amyotrophic lateral sclerosis and related disorders NGS panel	NGS Del Dup

TUBB1
Thrombocytopenia NGS Panel	Del Dup NGS

TWIST1
Craniosynostosis core NGS panel	Del Dup NGS
Craniosynostosis NGS panel	Del Dup NGS
Craniosynostosis, type 1	Sanger Del Dup
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel	Sanger
Saethre-Chotzen syndrome	Sanger Del Dup

TWIST2
Ablepharon-macrostomia syndrome	Sanger Del Dup
Barber-Say syndrome	Sanger Del Dup

TYR
Waardenburg syndrome NGS panel	NGS Del Dup

TYROBP
Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS

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