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
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
TARDBP
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
TBCE
Kenny-Caffey syndrome NGS panel
Del Dup
NGS
Kenny-Caffey syndrome, type 1
NGS
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
Del Dup
NGS
TBX22
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
TBX5
Atrial fibrillation NGS panel
Del Dup
NGS
Congenital heart disease NGS panel
Del Dup
NGS
TBX6
Spondylocostal dysostosis 5, autosomal dominant
NGS
Sanger
Del Dup
Spondylocostal dysostosis NGS panel
NGS
Del Dup
TBXA2R
Platelet bleeding disorders NGS panel
NGS
Del Dup
TBXAS1
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
TCAP
Distal Myopathy NGS panel
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TCF12
Craniosynostosis core NGS panel
NGS
Del Dup
Craniosynostosis NGS panel
Del Dup
NGS
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
Treacher Collins syndrome core NGS panel
NGS
Del Dup
TCTEX1D2
Skeletal dysplasia ciliopathy 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
TECRL
Cardiac channelopathy NGS panel
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia 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
Del Dup
NGS
TERC
Dyskeratosis congenita NGS panel
Del Dup
NGS
TERT
Dyskeratosis congenita NGS panel
Del Dup
NGS
TFAP2A
Branchiooculofacial syndrome
Del Dup
NGS
TFG
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
TGDS
Catel-Manzke syndrome
NGS
Del Dup
Cleft lip, cleft palate and related disorders NGS panel
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
Del Dup
NGS
Sanger
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
Del Dup
NGS
TGFB3
Loeys-Dietz Syndrome 5
Sanger
Del Dup
NGS
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
Del Dup
NGS
TGFBR1
Aortic aneurysm, familial thoracic 5
Del Dup
NGS
Sanger
Craniosynostosis NGS panel
Del Dup
NGS
Loeys-Dietz syndrome 1
NGS
Sanger
Del Dup
Loeys-Dietz syndrome core NGS panel
NGS
Del Dup
Loeys-Dietz syndrome NGS panel
NGS
Del Dup
Marfan syndrome and Loeys-Dietz syndrome core 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
NGS
Del Dup
Multiple self-healing squamous epithelioma
NGS
Sanger
Del Dup
TGFBR2
Aortic aneurysm, familial thoracic 3
Del Dup
NGS
Sanger
Craniosynostosis NGS panel
Del Dup
NGS
Loeys-Dietz syndrome 2
Sanger
Del Dup
NGS
Loeys-Dietz syndrome core NGS panel
Del Dup
NGS
Loeys-Dietz syndrome NGS panel
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome core 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
NGS
Del Dup
Marfan syndrome, type I / II NGS panel
Del Dup
NGS
Marfan syndrome, type II
NGS
Sanger
Del Dup
TGM1
Ichthyosis NGS panel
Del Dup
NGS
TGM5
Epidermolysis bullosa NGS panel
Del Dup
NGS
Ichthyosis NGS panel
Del Dup
NGS
Peeling skin syndrome NGS panel
Del Dup
NGS
THBD
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
TIA1
Distal Myopathy NGS panel
NGS
Del Dup
TINF2
Dyskeratosis congenita NGS panel
Del Dup
NGS
TJP2
Cholestasis NGS Panel
NGS
Del Dup
Cholestasis, progressive familial intrahepatic, 4
NGS
Del Dup
TMEM138
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
TMEM216
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
TMEM231
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
TMEM237
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
TMEM38B
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
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
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
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
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
NGS
Del Dup
TNNT3
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
NGS
Del Dup
TNPO3
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
TOR1AIP1
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TP63
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
TPM2
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Distal arthrogryposes NGS panel
Del Dup
NGS
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
NGS
Del Dup
Spondyloepiphyseal dysplasia tarda, X-linked
NGS
Sanger
Del Dup
TRDN
Cardiac channelopathy NGS panel
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel
NGS
Del Dup
Long QT syndrome NGS panel
NGS
Del Dup
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
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
TRPM4
Atrioventricular block NGS Panel
NGS
Del Dup
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
Progressive familial heart block type I 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
NGS
Del Dup
Hereditary motor and sensory neuropathy, type IIC
NGS
Del Dup
Metatropic dysplasia
NGS
Del Dup
Parastremmatic dwarfism
NGS
Del Dup
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
TSC1
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
Tuberous sclerosis NGS panel
Del Dup
NGS
TSC2
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Tuberous sclerosis NGS panel
Del Dup
NGS
TSPAN12
Exudative vitreoretinopathy 5
Del Dup
NGS
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
TSR2
Diamond-Blackfan anemia 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 NGS panel
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
Del Dup
NGS
TULP1
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
TWIST1
Craniosynostosis core NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
NGS
Del Dup
Craniosynostosis, type 1
Del Dup
NGS
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Saethre-Chotzen syndrome
NGS
Sanger
Del Dup
TWIST2
Ablepharon-macrostomia syndrome
NGS
Sanger
Del Dup
Barber-Say syndrome
NGS
Sanger
Del Dup
TXNL4A
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
TYR
Waardenburg syndrome NGS panel
Del Dup
NGS
TYROBP
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup

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