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

SATB2
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
Glass syndrome
Del Dup
NGS
SBDS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
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
Del Dup
NGS
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
NGS
Del Dup
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
SCN2B
Atrial fibrillation NGS panel
NGS
Del Dup
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
SCN3B
Atrial fibrillation NGS panel
Del Dup
NGS
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
NGS
Del Dup
SCN4B
Atrial fibrillation NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
Long QT syndrome NGS panel
NGS
Del Dup
SCN5A
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
Long QT syndrome NGS panel
Del Dup
NGS
Progressive familial heart block type I NGS panel
NGS
Del Dup
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
SEMA3A
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
SERPINA1
Alpha-1-antitrypsin deficiency
Sanger
Del Dup
SERPINB8
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel
NGS
Del Dup
SERPINF1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type VI
Sanger
Del Dup
SERPINH1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type X
Sanger
Del Dup
SETX
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
SF3B4
Acrofacial dysostosis 1, Nager type
Sanger
Del Dup
Mandibulofacial dysostosis and related disorders NGS panel
NGS
Del Dup
SGCA
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
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
Del Dup
NGS
SGSH
Mucopolysaccharidosis NGS panel
Del Dup
NGS
SH3TC2
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
SHOC2
Noonan spectrum disorder NGS panel
Del Dup
NGS
SHOX
Langer mesomelic dysplasia
Sanger
Del Dup
Leri-Weill dyschondrosteosis
Sanger
Del Dup
Short stature, idiopathic, X-linked
Sanger
Del Dup
SIGMAR1
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
SIX2
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
NGS
Del Dup
Frontonasal dysplasia, SIX2 related
Sanger
Del Dup
SKI
Craniosynostosis NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
Shprintzen-Goldberg craniosynostosis syndrome
NGS
Del Dup
SLC24A4
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
SLC26A2
Achondrogenesis NGS panel
Del Dup
NGS
Achondrogenesis, type IB - SLC26A2
Sanger
Del Dup
Atelosteogenesis, type II
Sanger
Del Dup
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Diastrophic dysplasia
Sanger
Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
SLC2A10
Arterial tortuosity syndrome
Sanger
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
SLC34A1
Abnormal mineralization disorders NGS panel
NGS
Del Dup
SLC34A3
Abnormal mineralization disorders NGS panel
Del Dup
NGS
SLC35D1
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
SLC39A13
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, spondylocheiro dysplastic form
Del Dup
NGS
SLC5A7
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
SLC9A3R1
Abnormal mineralization disorders NGS panel
NGS
Del Dup
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
Del Dup
NGS
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
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
SMAD3
Loeys-Dietz syndrome 3
Del Dup
Sanger
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
Del Dup
NGS
SMAD4
Hereditary Hemorrhagic telangiectasia NGS panel
Del Dup
NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Del Dup
Sanger
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
Myhre syndrome
Sanger
Del Dup
Vascular malformations NGS panel
Del Dup
NGS
SMAD9
Pulmonary hypertension NGS panel
NGS
Del Dup
Pulmonary hypertension, primary, 2
Del Dup
Sanger
Vascular malformations NGS panel
Del Dup
NGS
SMARCAL1
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
SMC1A
Cornelia de Lange syndrome NGS panel
Del Dup
NGS
SMC3
Cornelia de Lange syndrome NGS panel
Del Dup
NGS
SMOC2
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
SMS
Snyder-Robinson mental retardation syndrome
Sanger
Del Dup
SNAI2
Waardenburg syndrome NGS panel
Del Dup
NGS
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
NGS
Del Dup
SNX10
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
SOD1
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
SOS1
Noonan spectrum disorder NGS panel
NGS
Del Dup
SOS2
Noonan spectrum disorder NGS panel
Del Dup
NGS
SOST
Craniodiaphyseal dysplasia, autosomal dominant
Sanger
Del Dup
Dense bone dysplasia NGS panel
NGS
Del Dup
Hyperostosis corticalis generalisata (Van Buchem disease)
Del Dup
Sanger
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Sclerosteosis
Del Dup
Sanger
SOX10
Waardenburg syndrome NGS panel
NGS
Del Dup
SOX9
Campomelic dysplasia
Sanger
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
Del Dup
NGS
SP7
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type XII
Sanger
Del Dup
SPARC
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type XVII
Del Dup
Sanger
SPATA7
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
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
NGS
Del Dup
Distal Myopathy
NGS
Del Dup
Paget disease of bone 3
Del Dup
NGS
Paget disease of bone and related disorders NGS panel
Del Dup
NGS
SRC
Thrombocytopenia NGS Panel
NGS
Del Dup
ST14
Ichthyosis NGS panel
NGS
Del Dup
STAMBP
Microcephaly-capillary malformation syndrome
Del Dup
NGS
STS
Ichthyosis NGS panel
NGS
Del Dup
SUFU
Basal cell nevus syndrome - SUFU
NGS
Del Dup
Basal cell nevus syndrome NGS panel
NGS
Del Dup
SULT2B1
Ichthyosis NGS panel
NGS
Del Dup

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