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 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
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
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
SCN1B
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
SCN2B
Atrial fibrillation NGS panel
Del Dup
NGS
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
NGS
Del Dup
SCN3B
Atrial fibrillation NGS panel
NGS
Del Dup
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
SCN4B
Atrial fibrillation NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS
SCN5A
Atrial fibrillation NGS panel
Del Dup
NGS
Atrioventricular block NGS Panel
Del Dup
NGS
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
Long QT syndrome NGS panel
NGS
Del Dup
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
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
SEC61A1
Hyperuricemic nephropathy, familial juvenile NGS panel
NGS
Del Dup
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
SEC63
Polycystic liver disease NGS panel
Del Dup
NGS
SEMA3A
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
SERPINB8
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel
NGS
Del Dup
Peeling skin syndrome NGS panel
Del Dup
NGS
SERPINF1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type VI
NGS
Sanger
Del Dup
SERPINH1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type X
NGS
Sanger
Del Dup
SETD2
Overgrowth syndrome NGS panel
NGS
Del Dup
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
Sanger
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
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
Del Dup
NGS
SGPL1
Nephrotic syndrome and related disorders 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
NGS
Del Dup
Noonan syndrome core NGS panel
NGS
Del Dup
SHOX
Langer mesomelic dysplasia
Del Dup
NGS
Sanger
Leri-Weill dyschondrosteosis
NGS
Sanger
Del Dup
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
NGS
Del Dup
SIX2
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel
Del Dup
NGS
Frontonasal dysplasia, SIX2 related
NGS
Sanger
Del Dup
SKI
Connective tissue disorder NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
Shprintzen-Goldberg craniosynostosis syndrome
Del Dup
NGS
SLC12A1
Bartter syndrome and related disorders NGS panel
NGS
Del Dup
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
SLC12A3
Bartter syndrome and related disorders NGS panel
NGS
Del Dup
SLC22A12
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC24A4
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
SLC25A24
Craniosynostosis NGS panel
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
SLC26A1
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC26A2
Achondrogenesis NGS panel
Del Dup
NGS
Achondrogenesis, type IB - SLC26A2
Del Dup
NGS
Sanger
Atelosteogenesis, type II
NGS
Sanger
Del Dup
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Diastrophic dysplasia
NGS
Sanger
Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel
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
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
SLC2A10
Arterial tortuosity syndrome
Del Dup
NGS
Sanger
Connective tissue disorder NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
SLC2A9
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC34A1
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
SLC34A3
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC35D1
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
SLC39A13
Connective tissue disorder NGS panel
NGS
Del Dup
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
Del Dup
NGS
SLC3A1
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC4A1
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
SLC5A7
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
SLC7A9
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
SLC9A3R1
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
SLCO2A1
Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
SLFN14
Platelet bleeding disorders NGS panel
NGS
Del Dup
Thrombocytopenia NGS Panel
NGS
Del Dup
SLMAP
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
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
Del Dup
NGS
Sanger
Pulmonary hypertension NGS panel
NGS
Del Dup
Vascular malformations NGS panel
Del Dup
NGS
SMAD9
Pulmonary hypertension NGS panel
NGS
Del Dup
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
SMOC2
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
SMPD1
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
SMS
Snyder-Robinson mental retardation syndrome
Del Dup
NGS
SNAI2
Waardenburg syndrome NGS panel
NGS
Del Dup
SNAP29
Lissencephaly and related disorders NGS panel
Del Dup
NGS
SNRNP200
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
SNRPE
Hypotrichosis NGS panel
Del Dup
NGS
SNTA1
Cardiac channelopathy NGS panel
NGS
Del Dup
Long QT syndrome NGS panel
Del Dup
NGS
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
Noonan syndrome core NGS panel
Del Dup
NGS
SOS2
Noonan spectrum disorder NGS panel
Del Dup
NGS
Noonan syndrome core NGS panel
Del Dup
NGS
SOST
Craniodiaphyseal dysplasia, autosomal dominant
NGS
Sanger
Del Dup
Dense bone dysplasia NGS panel
Del Dup
NGS
Hyperostosis corticalis generalisata (Van Buchem disease)
Del Dup
NGS
Sanger
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
NGS
Del Dup
SOX9
Campomelic dysplasia
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
NGS
Del Dup
SP7
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type XII
NGS
Sanger
Del Dup
SPARC
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type XVII
Del Dup
NGS
Sanger
SPATA7
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
SPECC1L
Opitz GBBB syndrome NGS panel
Del Dup
NGS
SPG11
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
SPRED1
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
Noonan spectrum disorder NGS panel
Del Dup
NGS
SQSTM1
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
Distal Myopathy NGS panel
NGS
Del Dup
Paget disease of bone 3
NGS
Del Dup
Paget disease of bone and related disorders NGS panel
NGS
Del Dup
SRC
Thrombocytopenia NGS Panel
NGS
Del Dup
SRD5A3
Lissencephaly and related disorders NGS panel
Del Dup
NGS
ST14
Ichthyosis NGS panel
Del Dup
NGS
STAMBP
Microcephaly-capillary malformation syndrome
Del Dup
NGS
STS
Ichthyosis NGS panel
NGS
Del Dup
SUFU
Basal cell nevus syndrome - SUFU
Del Dup
NGS
Basal cell nevus syndrome NGS panel
NGS
Del Dup
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
SULT2B1
Ichthyosis NGS panel
Del Dup
NGS
SUMO1
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup

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