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

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
NGS
Del Dup
TBCE
Kenny-Caffey syndrome NGS panel
NGS
Del Dup
Kenny-Caffey syndrome, type 1
NGS
Del Dup
TBK1
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
TBX1
Congenital heart disease NGS panel
NGS
Del Dup
TBX20
Congenital heart disease NGS panel
NGS
Del Dup
TBX5
Congenital heart disease NGS panel
NGS
Del Dup
TBX6
Spondylocostal dysostosis 5, autosomal dominant
Sanger
Del Dup
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
NGS
Del Dup
Platelet bleeding disorders NGS panel
NGS
Del Dup
Thrombocytopenia NGS Panel
NGS
Del Dup
TCAP
Distal Myopathy
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
TCF12
Craniosynostosis core NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
Del Dup
NGS
TCIRG1
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis core NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis, autosomal recessive 1
Del Dup
NGS
TCOF1
Treacher Collins syndrome 1
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
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
NGS
Del Dup
TEK
Cutaneomucosal venous malformations
Del Dup
NGS
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
Sanger
Del Dup
TFG
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
TGDS
Catel-Manzke syndrome
Del Dup
NGS
TGFB1
Camurati-Engelmann disease
NGS
Del Dup
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
TGFB2
Loeys-Dietz syndrome 4
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
TGFB3
Loeys-Dietz Syndrome 5
Del Dup
Sanger
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
TGFBR1
Aortic aneurysm, familial thoracic 5
Sanger
Del Dup
Aortic aneurysm, familial thoracic 5 / 3
Del Dup
Sanger
Craniosynostosis NGS panel
Del Dup
NGS
Loeys-Dietz syndrome 1
Sanger
Del Dup
Loeys-Dietz syndrome 1 / 2
Del Dup
Sanger
Loeys-Dietz syndrome NGS panel
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core NGS panel
Del Dup
NGS
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
Multiple self-healing squamous epithelioma
Sanger
Del Dup
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
Sanger
Del Dup
Loeys-Dietz syndrome 2
Del Dup
Sanger
Loeys-Dietz syndrome NGS panel
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core 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
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
Del Dup
NGS
Marfan syndrome, type II
Del Dup
Sanger
TGM1
Ichthyosis NGS panel - Nonsyndromic
NGS
Del Dup
TGM5
Epidermolysis bullosa NGS panel
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
THBD
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
TIA1
Distal Myopathy
NGS
Del Dup
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
NGS
Del Dup
TNFRSF11A
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis, autosomal recessive 7
NGS
Del Dup
Paget disease of bone 2
NGS
Del Dup
Paget disease of bone and related disorders NGS panel
Del Dup
NGS
TNFRSF11B
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Paget disease of bone 5
Del Dup
NGS
Paget disease of bone and related disorders NGS panel
Del Dup
NGS
TNFSF11
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
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
NGS
Del Dup
TNPO3
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
TPM2
Distal arthrogryposes NGS panel
Del Dup
NGS
TRAIP
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
TRAPPC11
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TRAPPC2
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked
Del Dup
Sanger
TRIM2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
TRIM32
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TRIP11
Achondrogenesis NGS panel
NGS
Del Dup
Achondrogenesis, type IA
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
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
Del Dup
NGS
TRPV4
Brachyolmia type 3
Del Dup
NGS
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
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
NGS
Del Dup
Metatropic dysplasia
NGS
Del Dup
Parastremmatic dwarfism
Del Dup
NGS
Scapuloperoneal spinal muscular atrophy
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spinal muscular atrophy, distal, congenital nonprogressive
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondyloepiphyseal dysplasia, Maroteaux type
Del Dup
NGS
Spondylometaphyseal dysplasia, Kozlowski type
Del Dup
NGS
TSPAN12
Exudative vitreoretinopathy 5
Del Dup
NGS
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
TTC21B
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
Short-rib thoracic dysplasia 4 with or without polydactyly
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
NGS
Del Dup
TTN
Distal Myopathy
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TUBA4A
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
TUBB1
Thrombocytopenia NGS Panel
NGS
Del Dup
TWIST1
Craniosynostosis core NGS panel
NGS
Del Dup
Craniosynostosis NGS panel
NGS
Del Dup
Craniosynostosis, type 1
Del Dup
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Saethre-Chotzen syndrome
Del Dup
Sanger
TWIST2
Ablepharon-macrostomia syndrome
Sanger
Del Dup
Barber-Say syndrome
Sanger
Del Dup
TYR
Waardenburg syndrome NGS panel
Del Dup
NGS
TYROBP
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup

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