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

TAB2
Frontometaphyseal dysplasia NGS panel
NGS
Del Dup
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, type 1
Sanger
Del Dup
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
Del Dup
NGS
TBX20
Congenital heart disease NGS panel
NGS
Del Dup
TBX5
Congenital heart disease NGS panel
Del Dup
NGS
TBX6
Spondylocostal dysostosis 5, autosomal dominant
Del Dup
Sanger
Spondylocostal dysostosis NGS panel
NGS
Del Dup
TBXA2R
Platelet bleeding disorders NGS panel
Del Dup
NGS
TBXAS1
Dense bone dysplasia NGS panel
NGS
Del Dup
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
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
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
NGS
Del Dup
TCOF1
Treacher Collins syndrome 1
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
TCTN1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
Vascular malformations NGS panel
NGS
Del Dup
TERC
Dyskeratosis congenita NGS panel
Del Dup
NGS
TERT
Dyskeratosis congenita NGS panel
Del Dup
NGS
TFAP2A
Branchiooculofacial syndrome
Del Dup
Sanger
TFG
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
TGDS
Catel-Manzke syndrome
Del Dup
NGS
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
Sanger
Del Dup
Loeys-Dietz syndrome 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
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
NGS
Del Dup
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
Sanger
Del Dup
Aortic aneurysm, familial thoracic 5 / 3
Sanger
Del Dup
Craniosynostosis NGS panel
Del Dup
NGS
Loeys-Dietz syndrome 1
Del Dup
Sanger
Loeys-Dietz syndrome 1 / 2
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
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
Sanger
Del Dup
Aortic aneurysm, familial thoracic 5 / 3
Del Dup
Sanger
Craniosynostosis NGS panel
NGS
Del Dup
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
Del Dup
NGS
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
Marfan syndrome, type I / II NGS panel
Del Dup
NGS
Marfan syndrome, type II
Sanger
Del Dup
TGM1
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
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
NGS
Del Dup
TIA1
Distal Myopathy
NGS
Del Dup
TINF2
Dyskeratosis congenita NGS panel
Del Dup
NGS
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
Del Dup
NGS
TMEM231
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
TMEM237
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
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
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
Osteopetrosis, autosomal recessive 7
Del Dup
NGS
Paget disease of bone 2
Del Dup
NGS
Paget disease of bone and related disorders NGS panel
NGS
Del Dup
TNFRSF11B
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
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
NGS
Del Dup
Osteopetrosis, autosomal recessive 2
NGS
Del Dup
TNNI2
Distal arthrogryposes NGS panel
Del Dup
NGS
TNNT3
Distal arthrogryposes NGS panel
NGS
Del Dup
TNPO3
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
TPM2
Distal arthrogryposes NGS panel
NGS
Del Dup
TRAIP
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
TRAPPC11
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
TRAPPC2
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked
Del Dup
NGS
TRIM2
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
TRIM32
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TRIP11
Achondrogenesis NGS panel
Del Dup
NGS
Achondrogenesis, type IA
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
Del Dup
NGS
TRPC6
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
TRPS1
Trichorhinophalangeal syndrome, type I / III
Del Dup
Sanger
TRPV4
Brachyolmia type 3
NGS
Del Dup
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
Digital arthropathy-brachydactyly, familial
NGS
Del Dup
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
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
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
Del Dup
Sanger
Barber-Say syndrome
Del Dup
Sanger
TYR
Waardenburg syndrome NGS panel
Del Dup
NGS
TYROBP
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS

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