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
Congenital heart disease NGS panel	Del Dup NGS
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	Del Dup NGS

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

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	Del Dup NGS 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 NGS panel	NGS Del Dup
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

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

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	NGS Del Dup
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	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	NGS Del Dup

TCTN1
Joubert syndrome and related disorders NGS panel	NGS Del Dup

TCTN2
Joubert syndrome and related disorders NGS panel	NGS Del Dup

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

TERC
Dyskeratosis congenita NGS panel	NGS Del Dup

TERT
Dyskeratosis congenita NGS panel	Del Dup NGS

TFAP2A
Branchiooculofacial syndrome	Del Dup NGS

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

TGDS
Catel-Manzke syndrome	Del Dup NGS
Cleft lip, cleft palate and related disorders NGS panel	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
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	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup

TGFB3
Connective tissue disorder NGS panel	NGS Del Dup
Loeys-Dietz Syndrome 5	Del Dup NGS 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	NGS Del Dup

TGFBR1
Aortic aneurysm, familial thoracic 5	NGS Sanger Del Dup
Connective tissue disorder NGS panel	Del Dup NGS
Craniosynostosis NGS panel	NGS Del Dup
Loeys-Dietz syndrome 1	Del Dup NGS Sanger
Loeys-Dietz syndrome core NGS panel	Del Dup NGS
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	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	Del Dup NGS Sanger
Loeys-Dietz syndrome core NGS panel	Del Dup NGS
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	Del Dup NGS
Marfan syndrome, type I / II NGS panel	NGS Del Dup
Marfan syndrome, type II	Sanger Del Dup NGS

TGM1
Ichthyosis NGS panel	NGS Del Dup

TGM5
Epidermolysis bullosa NGS panel	NGS Del Dup
Ichthyosis NGS panel	Del Dup NGS
Peeling skin syndrome NGS panel	NGS Del Dup

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	Del Dup NGS

TMEM107
Joubert syndrome and related disorders NGS panel	NGS Del Dup

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	Del Dup NGS
Nephronophthisis and related disorders NGS panel	Del Dup NGS

TMEM231
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Polycystic kidney disease 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	Del Dup NGS

TMEM67
Joubert syndrome and related disorders NGS panel	NGS Del Dup
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	Del Dup NGS
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	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	Del Dup NGS
Osteopetrosis NGS panel	NGS Del Dup
Osteopetrosis, autosomal recessive 2	NGS Del Dup

TNNI2
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Distal arthrogryposes NGS panel	Del Dup NGS

TNNT3
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Distal arthrogryposes NGS panel	Del Dup NGS

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	NGS Del Dup
Distal arthrogryposes NGS panel	NGS Del Dup

TRAF3IP1
Nephronophthisis and related disorders NGS panel	NGS Del Dup

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	Del Dup NGS
Spondyloepiphyseal dysplasia tarda, X-linked	Sanger Del Dup NGS

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

TREX1
Cerebral small vessel disease NGS panel	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	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	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

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	NGS Del Dup

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 and skeletal ciliopathy NGS panel	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	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS
Spondyloepiphyseal dysplasia, Maroteaux type	NGS Del Dup
Spondylometaphyseal dysplasia, Kozlowski type	NGS Del Dup

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	NGS Del Dup
Exudative vitreoretinopathy NGS panel	NGS Del Dup
Vitreoretinopathy NGS panel	NGS Del Dup

TSR2
Diamond-Blackfan anemia NGS panel	Del Dup NGS

TTC21B
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Nephronophthisis and related disorders NGS panel	Del Dup NGS
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS
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	Del Dup NGS
Lissencephaly core NGS panel	Del Dup NGS

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

TUBA8
Lissencephaly and related disorders NGS panel	Del Dup NGS

TUBB
Lissencephaly and related disorders NGS panel	NGS Del Dup

TUBB1
Thrombocytopenia NGS Panel	Del Dup NGS

TUBB2A
Lissencephaly and related disorders NGS panel	NGS Del Dup

TUBB2B
Lissencephaly and related disorders NGS panel	NGS Del Dup

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

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

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

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