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

TAB2
Congenital heart disease NGS panel
NGS
Del Dup
Frontometaphyseal dysplasia NGS panel
NGS
Del Dup
TAPT1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
TARDBP
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
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
Del Dup
NGS
TBX20
Congenital heart disease NGS panel
NGS
Del Dup
TBX22
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
TBX5
Atrial fibrillation NGS panel
Del Dup
NGS
Congenital heart disease NGS panel
Del Dup
NGS
TBX6
Spondylocostal dysostosis 5, autosomal dominant
Del Dup
NGS
Sanger
Spondylocostal dysostosis NGS panel
Del Dup
NGS
TBXA2R
Platelet bleeding disorders NGS panel
Del Dup
NGS
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 panel
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
Del Dup
NGS
Osteopetrosis core NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis, autosomal recessive 1
NGS
Del Dup
TCOF1
Treacher Collins syndrome 1
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
Treacher Collins syndrome core NGS panel
Del Dup
NGS
TCTEX1D2
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal 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
NGS
Del Dup
TECRL
Cardiac channelopathy NGS panel
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel
NGS
Del Dup
TEK
Cutaneomucosal venous malformations
Del Dup
NGS
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
NGS
Del Dup
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
NGS
Del Dup
TGFB1
Camurati-Engelmann disease
NGS
Del Dup
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
TGFB2
Connective tissue disorder NGS panel
Del Dup
NGS
Loeys-Dietz syndrome 4
NGS
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
NGS
Del Dup
TGFB3
Connective tissue disorder NGS panel
Del Dup
NGS
Loeys-Dietz Syndrome 5
NGS
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
NGS
Del Dup
TGFBR1
Aortic aneurysm, familial thoracic 5
Sanger
Del Dup
NGS
Connective tissue disorder NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
NGS
Del Dup
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
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
Del Dup
NGS
Multiple self-healing squamous epithelioma
Del Dup
NGS
Sanger
TGFBR2
Aortic aneurysm, familial thoracic 3
NGS
Sanger
Del Dup
Connective tissue disorder NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
NGS
Del Dup
Loeys-Dietz syndrome 2
NGS
Sanger
Del Dup
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
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
Del Dup
NGS
Marfan syndrome, type I / II NGS panel
NGS
Del Dup
Marfan syndrome, type II
Del Dup
NGS
Sanger
TGM1
Ichthyosis NGS panel
Del Dup
NGS
TGM5
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel
NGS
Del Dup
Peeling skin syndrome NGS panel
Del Dup
NGS
THBD
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
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
TMEM107
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
TMEM138
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
TMEM216
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
Nephronophthisis 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
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
TMEM67
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
TMTC3
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Lissencephaly core NGS panel
Del Dup
NGS
TNFRSF11A
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
Del Dup
NGS
Osteopetrosis, autosomal recessive 7
Del Dup
NGS
Paget disease of bone 2
NGS
Del Dup
Paget disease of bone and related disorders NGS panel
NGS
Del Dup
TNFRSF11B
Dense bone dysplasia NGS panel
NGS
Del Dup
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
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Distal arthrogryposes NGS panel
Del Dup
NGS
TNNT3
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
NGS
Del Dup
TNPO3
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TOR1AIP1
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
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
NGS
Del Dup
TRAF3IP1
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
TRAIP
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
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
NGS
Sanger
TRDN
Cardiac channelopathy NGS panel
NGS
Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel
NGS
Del Dup
Long QT syndrome NGS panel
Del Dup
NGS
TREX1
Cerebral small vessel disease 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
NGS
Del Dup
Achondrogenesis, type IA
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
Del Dup
NGS
TRPC6
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
TRPM4
Atrioventricular block NGS Panel
Del Dup
NGS
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
Progressive familial heart block type I NGS panel
Del Dup
NGS
TRPS1
Trichorhinophalangeal syndrome, type I / III
NGS
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
NGS
Del Dup
Hereditary motor and sensory neuropathy, type IIC
Del Dup
NGS
Metatropic dysplasia
Del Dup
NGS
Parastremmatic dwarfism
NGS
Del Dup
Scapuloperoneal spinal muscular atrophy
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spinal muscular atrophy, distal, congenital nonprogressive
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondyloepiphyseal dysplasia, Maroteaux type
NGS
Del Dup
Spondylometaphyseal dysplasia, Kozlowski type
Del Dup
NGS
TSC1
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Tuberous sclerosis NGS panel
Del Dup
NGS
TSC2
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Tuberous sclerosis NGS panel
NGS
Del Dup
TSPAN12
Exudative vitreoretinopathy 5
NGS
Del Dup
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
TSR2
Diamond-Blackfan anemia NGS panel
NGS
Del Dup
TTC21B
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
Nephronophthisis and related disorders NGS panel
NGS
Del Dup
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
Short-rib thoracic dysplasia 4 with or without polydactyly
Del Dup
NGS
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
TTN
Distal Myopathy NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
TUBA1A
Lissencephaly and related disorders NGS panel
NGS
Del Dup
Lissencephaly core NGS panel
NGS
Del Dup
TUBA4A
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
TUBA8
Lissencephaly and related disorders NGS panel
NGS
Del Dup
TUBB
Lissencephaly and related disorders NGS panel
NGS
Del Dup
TUBB1
Thrombocytopenia NGS Panel
NGS
Del Dup
TUBB2A
Lissencephaly and related disorders NGS panel
Del Dup
NGS
TUBB2B
Lissencephaly and related disorders NGS panel
Del Dup
NGS
TUBB3
Lissencephaly and related disorders NGS panel
Del Dup
NGS
TUBG1
Lissencephaly and related disorders 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
NGS
Sanger
Del Dup
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Saethre-Chotzen syndrome
NGS
Sanger
Del Dup
TWIST2
Ablepharon-macrostomia syndrome
Sanger
Del Dup
NGS
Barber-Say syndrome
NGS
Sanger
Del Dup
TXNL4A
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
TYR
Waardenburg syndrome NGS panel
Del Dup
NGS
TYROBP
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS

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