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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S

SATB2
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS
Glass syndrome	Del Dup NGS

SBDS
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia extended NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

SBF1
Charcot-Marie-Tooth disease NGS panel	NGS Del Dup

SBF2
Charcot-Marie-Tooth disease NGS panel	NGS Del Dup

SCARB2
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

SCN10A
Brugada syndrome and related disorders NGS panel	NGS Del Dup
Cardiac channelopathy NGS panel	NGS Del Dup

SCN1B
Atrial fibrillation NGS panel	Del Dup NGS
Atrioventricular block NGS Panel	Del Dup NGS
Brugada syndrome and related disorders NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	Del Dup NGS

SCN2B
Atrial fibrillation NGS panel	Del Dup NGS
Brugada syndrome and related disorders NGS panel	NGS Del Dup
Cardiac channelopathy NGS panel	NGS Del Dup

SCN3B
Atrial fibrillation NGS panel	NGS Del Dup
Brugada syndrome and related disorders NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	Del Dup NGS

SCN4B
Atrial fibrillation NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	NGS Del Dup
Long QT syndrome NGS panel	NGS Del Dup

SCN5A
Atrial fibrillation NGS panel	NGS Del Dup
Atrioventricular block NGS Panel	NGS Del Dup
Brugada syndrome and related disorders NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	Del Dup NGS
Long QT syndrome NGS panel	Del Dup NGS
Progressive familial heart block type I NGS panel	Del Dup NGS

SDCCAG8
Nephronophthisis and related disorders NGS panel	Del Dup NGS

SEC24D
Cole-Carpenter syndrome 2	Del Dup NGS
Cole-Carpenter syndrome NGS panel	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS

SEC61A1
Hyperuricemic nephropathy, familial juvenile NGS panel	Del Dup NGS
Polycystic kidney disease and related disorders NGS panel	Del Dup NGS

SEC63
Polycystic liver disease NGS panel	NGS Del Dup

SEMA3A
Brugada syndrome and related disorders NGS panel	NGS Del Dup
Cardiac channelopathy NGS panel	NGS Del Dup

SERPINB8
Epidermolysis bullosa NGS panel	Del Dup NGS
Ichthyosis NGS panel	Del Dup NGS
Peeling skin syndrome NGS panel	Del Dup NGS

SERPINF1
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type VI	Del Dup NGS Sanger

SERPINH1
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type X	Sanger Del Dup NGS

SETD2
Overgrowth syndrome NGS panel	Del Dup NGS

SETX
Amyotrophic lateral sclerosis and related disorders NGS panel	NGS Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel	NGS Del Dup

SF3B4
Acrofacial dysostosis 1, Nager type	Del Dup NGS Sanger
Treacher Collins syndrome and related disorders NGS panel	NGS Del Dup

SGCA
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

SGCB
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

SGCD
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

SGCG
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

SGPL1
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

SGSH
Mucopolysaccharidosis NGS panel	NGS Del Dup

SH3TC2
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

SHOC2
Noonan spectrum disorder NGS panel	Del Dup NGS
Noonan syndrome core NGS panel	Del Dup NGS

SHOX
Langer mesomelic dysplasia	Del Dup NGS Sanger
Leri-Weill dyschondrosteosis	Sanger Del Dup NGS
Short stature, idiopathic, X-linked	NGS Sanger Del Dup

SIGMAR1
Amyotrophic lateral sclerosis and related disorders NGS panel	Del Dup NGS
Distal hereditary motor neuropathy and related disorders NGS panel	Del Dup NGS

SIX2
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel	Del Dup NGS
Frontonasal dysplasia, SIX2 related	Sanger Del Dup NGS

SKI
Connective tissue disorder NGS panel	NGS Del Dup
Craniosynostosis NGS panel	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup
Shprintzen-Goldberg craniosynostosis syndrome	Del Dup NGS

SLC12A1
Bartter syndrome and related disorders NGS panel	Del Dup NGS
Nephrolithiasis and related disorders NGS panel	Del Dup NGS

SLC12A3
Bartter syndrome and related disorders NGS panel	Del Dup NGS

SLC22A12
Nephrolithiasis and related disorders NGS panel	Del Dup NGS

SLC24A4
Amelogenesis imperfecta and related disorders NGS panel	NGS Del Dup

SLC25A24
Craniosynostosis NGS panel	Del Dup NGS
Progeroid syndromes and related disorders NGS panel	Del Dup NGS

SLC26A1
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

SLC26A2
Achondrogenesis NGS panel	Del Dup NGS
Achondrogenesis, type IB - SLC26A2	Del Dup NGS Sanger
Atelosteogenesis, type II	Del Dup NGS Sanger
Desbuquois dysplasia and related disorders NGS panel	Del Dup NGS
Diastrophic dysplasia	NGS Sanger Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	NGS Del Dup
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia core NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup

SLC2A10
Arterial tortuosity syndrome	Del Dup NGS Sanger
Connective tissue disorder NGS panel	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup

SLC2A9
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

SLC34A1
Abnormal mineralization disorders NGS panel	NGS Del Dup
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

SLC34A3
Abnormal mineralization disorders NGS panel	NGS Del Dup
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

SLC35D1
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia extended NGS panel	NGS Del Dup

SLC37A4
Extended Carrier Screening panel	Comp

SLC39A13
Connective tissue disorder NGS panel	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive	NGS Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel	NGS Del Dup
Ehlers-Danlos syndrome, spondylodysplastic type, 3	NGS Del Dup

SLC3A1
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

SLC4A1
Nephrolithiasis and related disorders NGS panel	Del Dup NGS

SLC5A7
Distal hereditary motor neuropathy and related disorders NGS panel	Del Dup NGS

SLC6A8
Extended Carrier Screening panel	Comp

SLC7A9
Nephrolithiasis and related disorders NGS panel	Del Dup NGS

SLC9A3R1
Abnormal mineralization disorders NGS panel	NGS Del Dup
Nephrolithiasis and related disorders NGS panel	Del Dup NGS

SLCO2A1
Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS

SLFN14
Platelet bleeding disorders NGS panel	NGS Del Dup
Thrombocytopenia NGS Panel	NGS Del Dup

SLMAP
Brugada syndrome and related disorders NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	Del Dup NGS

SMAD2
Connective tissue disorder NGS panel	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup

SMAD3
Connective tissue disorder NGS panel	Del Dup NGS
Loeys-Dietz syndrome 3	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

SMAD4
Connective tissue disorder NGS panel	Del Dup NGS
Hereditary Hemorrhagic telangiectasia NGS panel	NGS Del Dup
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	NGS Sanger Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup
Myhre syndrome	NGS Sanger Del Dup
Pulmonary hypertension NGS panel	NGS Del Dup
Vascular malformations NGS panel	Del Dup NGS

SMAD9
Pulmonary hypertension NGS panel	Del Dup NGS
Pulmonary hypertension, primary, 2	NGS Sanger Del Dup
Vascular malformations NGS panel	Del Dup NGS

SMARCAL1
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

SMC1A
Cornelia de Lange syndrome and related disorders NGS panel	Del Dup NGS

SMC3
Cornelia de Lange syndrome and related disorders NGS panel	Del Dup NGS

SMN1
Common Carrier Screening Panel	Comp
Extended Carrier Screening panel	Comp
Spinal Muscular Atrophy Carrier Screening	Comp

SMN2
Common Carrier Screening Panel	Comp
Extended Carrier Screening panel	Comp
Spinal Muscular Atrophy Carrier Screening	Comp

SMOC2
Amelogenesis imperfecta and related disorders NGS panel	NGS Del Dup

SMPD1
Common Carrier Screening Panel	Comp
Extended Carrier Screening panel	Comp
Platelet bleeding disorders NGS panel	Del Dup NGS
Thrombocytopenia NGS Panel	NGS Del Dup

SMS
Snyder-Robinson mental retardation syndrome	Del Dup NGS

SNAI2
Waardenburg syndrome NGS panel	NGS Del Dup

SNAP29
Lissencephaly and related disorders NGS panel	NGS Del Dup

SNRNP200
Leber congenital amaurosis and related disorders NGS panel	Del Dup NGS

SNRPE
Hypotrichosis NGS panel	NGS Del Dup

SNTA1
Cardiac channelopathy NGS panel	Del Dup NGS
Long QT syndrome NGS panel	Del Dup NGS

SNX10
Osteopetrosis and Dense bone dysplasia NGS panel	NGS Del Dup
Osteopetrosis NGS panel	NGS Del Dup

SOD1
Amyotrophic lateral sclerosis and related disorders NGS panel	Del Dup NGS

SOS1
Noonan spectrum disorder NGS panel	Del Dup NGS
Noonan syndrome core NGS panel	NGS Del Dup

SOS2
Noonan spectrum disorder NGS panel	Del Dup NGS
Noonan syndrome core NGS panel	NGS Del Dup

SOST
Craniodiaphyseal dysplasia, autosomal dominant	NGS Sanger Del Dup
Dense bone dysplasia NGS panel	Del Dup NGS
Hyperostosis corticalis generalisata (Van Buchem disease)	NGS Sanger Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Sclerosteosis	Del Dup NGS Sanger

SOX10
Waardenburg syndrome NGS panel	NGS Del Dup

SOX3
Short stature with endocrinopathy NGS panel	Del Dup NGS

SOX9
Campomelic dysplasia	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia core NGS panel	NGS Del Dup

SP7
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type XII	Sanger Del Dup NGS

SPARC
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	NGS Del Dup
Osteogenesis imperfecta, type XVII	Del Dup NGS Sanger

SPATA7
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup

SPECC1L
Opitz GBBB syndrome NGS panel	NGS Del Dup

SPG11
Amyotrophic lateral sclerosis and related disorders NGS panel	Del Dup NGS

SPRED1
Neurofibromatosis and related disorders NGS panel	NGS Del Dup
Noonan spectrum disorder NGS panel	NGS Del Dup

SQSTM1
Amyotrophic lateral sclerosis and related disorders NGS panel	Del Dup NGS
Distal Myopathy NGS panel	Del Dup NGS
Paget disease of bone 3	NGS Del Dup
Paget disease of bone and related disorders NGS panel	Del Dup NGS

SRC
Thrombocytopenia NGS Panel	Del Dup NGS

SRD5A3
Lissencephaly and related disorders NGS panel	NGS Del Dup

ST14
Ichthyosis NGS panel	Del Dup NGS

STAMBP
Microcephaly-capillary malformation syndrome	Del Dup NGS

STS
Ichthyosis NGS panel	Del Dup NGS

SUFU
Basal cell nevus syndrome - SUFU	NGS Del Dup
Basal cell nevus syndrome NGS panel	NGS Del Dup
Joubert syndrome and related disorders NGS panel	Del Dup NGS

SULT2B1
Ichthyosis NGS panel	NGS Del Dup

SUMF1
Extended Carrier Screening panel	Comp

SUMO1
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS

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