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	NGS Del Dup
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	Del Dup NGS

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	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	Del Dup NGS

TBX5
Atrial fibrillation NGS panel	NGS Del Dup
Congenital heart disease NGS panel	NGS Del Dup

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	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	Del Dup NGS
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	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
Treacher Collins syndrome core NGS panel	Del Dup NGS

TCTEX1D2
Skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS

TCTN1
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TCTN2
Joubert syndrome and related disorders NGS panel	NGS Del Dup

TCTN3
Joubert syndrome and related disorders NGS panel	NGS Del Dup

TECRL
Cardiac channelopathy NGS panel	NGS Del Dup
Catecholaminergic polymorphic ventricular tachycardia 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	NGS Del Dup

TERC
Dyskeratosis congenita NGS panel	Del Dup NGS

TERT
Dyskeratosis congenita NGS panel	NGS Del Dup

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	NGS Del Dup
Dense bone dysplasia NGS panel	NGS Del Dup
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	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	Del Dup NGS
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	NGS Sanger Del Dup
Connective tissue disorder NGS panel	Del Dup NGS
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	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	Del Dup NGS
Multiple self-healing squamous epithelioma	Del Dup NGS Sanger

TGFBR2
Aortic aneurysm, familial thoracic 3	Del Dup NGS Sanger
Connective tissue disorder NGS panel	NGS Del Dup
Craniosynostosis NGS panel	Del Dup NGS
Loeys-Dietz syndrome 2	NGS Sanger Del Dup
Loeys-Dietz syndrome core NGS panel	NGS Del Dup
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	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	Del Dup NGS

TINF2
Dyskeratosis congenita NGS panel	NGS Del Dup

TJP2
Cholestasis NGS Panel	Del Dup NGS
Cholestasis, progressive familial intrahepatic, 4	Del Dup NGS

TMEM107
Joubert syndrome and related disorders NGS panel	Del Dup NGS

TMEM138
Joubert syndrome and related disorders NGS panel	NGS Del Dup
Nephronophthisis and related disorders NGS panel	NGS Del Dup

TMEM216
Joubert syndrome and related disorders NGS panel	NGS Del Dup
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	Del Dup NGS

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
Nephronophthisis and related disorders NGS panel	NGS Del Dup

TMTC3
Lissencephaly and related disorders NGS panel	NGS Del Dup
Lissencephaly core 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	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	Del Dup NGS
Distal arthrogryposes NGS panel	NGS Del Dup

TNPO3
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

TOR1AIP1
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

TP63
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS

TPM2
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Distal arthrogryposes NGS panel	Del Dup NGS

TRAF3IP1
Nephronophthisis and related disorders 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	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	Del Dup NGS
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	NGS Del Dup

TRIM32
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

TRIP11
Achondrogenesis NGS panel	Del Dup NGS
Achondrogenesis, type IA	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
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	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	NGS Del Dup
Progressive familial heart block type I NGS panel	NGS Del Dup

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	NGS Del Dup
Scapuloperoneal spinal muscular atrophy	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
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	Del Dup NGS
Tuberous sclerosis NGS panel	NGS Del Dup

TSC2
Polycystic kidney disease and related disorders NGS panel	NGS Del Dup
Tuberous sclerosis NGS panel	NGS Del Dup

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	NGS Del Dup

TTC21B
Joubert syndrome and related disorders NGS panel	NGS Del Dup
Nephronophthisis and related disorders NGS panel	Del Dup NGS
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup
Short-rib thoracic dysplasia 4 with or without polydactyly	NGS Del Dup
Skeletal ciliopathy NGS panel	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS

TTN
Distal Myopathy NGS panel	NGS Del Dup
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

TUBA1A
Lissencephaly and related disorders NGS panel	NGS Del Dup
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	Del Dup NGS

TUBB1
Thrombocytopenia NGS Panel	Del Dup NGS

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	NGS Del Dup

TUBG1
Lissencephaly and related disorders NGS panel	NGS Del Dup

TULP1
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup

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

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

TXNL4A
Treacher Collins syndrome and related disorders NGS panel	Del Dup NGS

TYR
Waardenburg syndrome NGS panel	NGS Del Dup

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

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