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

SATB2
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
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
Del Dup
NGS
SBF2
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
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
Del Dup
NGS
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
SDCCAG8
Nephronophthisis and related disorders NGS panel
NGS
Del Dup
SEC24D
Cole-Carpenter syndrome 2
NGS
Del Dup
Cole-Carpenter syndrome NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
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
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
SERPINB8
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel
Del Dup
NGS
Peeling skin syndrome NGS panel
NGS
Del Dup
SERPINF1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
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
Del Dup
NGS
Sanger
SETD2
Overgrowth syndrome NGS panel
NGS
Del Dup
SETX
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
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
NGS
Del Dup
SGCD
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
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
Del Dup
NGS
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
NGS
Sanger
Del Dup
Leri-Weill dyschondrosteosis
Del Dup
NGS
Sanger
Short stature, idiopathic, X-linked
Sanger
Del Dup
NGS
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
Del Dup
NGS
Sanger
SKI
Connective tissue disorder NGS panel
Del Dup
NGS
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
NGS
Del Dup
SLC12A1
Bartter syndrome and related disorders NGS panel
NGS
Del Dup
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC12A3
Bartter syndrome and related disorders NGS panel
NGS
Del Dup
SLC22A12
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
Achondrogenesis, type IB - SLC26A2
NGS
Sanger
Del Dup
Atelosteogenesis, type II
Del Dup
NGS
Sanger
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Diastrophic dysplasia
Sanger
Del Dup
NGS
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
NGS
Sanger
Del Dup
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
Del Dup
NGS
SLC34A1
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
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
SLC39A13
Connective tissue disorder NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, spondylodysplastic type NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 3
NGS
Del Dup
SLC3A1
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC4A1
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC5A7
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
SLC7A9
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLC9A3R1
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
SLCO2A1
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
SLFN14
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
SLMAP
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
SMAD2
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
SMAD3
Connective tissue disorder NGS panel
NGS
Del Dup
Loeys-Dietz syndrome 3
Del Dup
NGS
Sanger
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
SMAD4
Connective tissue disorder NGS panel
NGS
Del Dup
Hereditary Hemorrhagic telangiectasia NGS panel
Del Dup
NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Del Dup
NGS
Sanger
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
Myhre syndrome
Sanger
Del Dup
NGS
Pulmonary hypertension NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
SMAD9
Pulmonary hypertension NGS panel
Del Dup
NGS
Pulmonary hypertension, primary, 2
Del Dup
NGS
Sanger
Vascular malformations NGS panel
Del Dup
NGS
SMARCAL1
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
SMOC2
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
SMPD1
Platelet bleeding disorders NGS panel
NGS
Del Dup
Thrombocytopenia NGS Panel
NGS
Del Dup
SMS
Snyder-Robinson mental retardation syndrome
NGS
Del Dup
SNAI2
Waardenburg syndrome NGS panel
Del Dup
NGS
SNAP29
Lissencephaly and related disorders NGS panel
NGS
Del Dup
SNRNP200
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
Osteopetrosis NGS panel
Del Dup
NGS
SOD1
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
SOS1
Noonan spectrum disorder NGS panel
Del Dup
NGS
Noonan syndrome core NGS panel
Del Dup
NGS
SOS2
Noonan spectrum disorder NGS panel
NGS
Del Dup
Noonan syndrome core NGS panel
NGS
Del Dup
SOST
Craniodiaphyseal dysplasia, autosomal dominant
Del Dup
NGS
Sanger
Dense bone dysplasia NGS panel
NGS
Del Dup
Hyperostosis corticalis generalisata (Van Buchem disease)
Sanger
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Sclerosteosis
NGS
Sanger
Del Dup
SOX10
Waardenburg syndrome NGS panel
Del Dup
NGS
SOX3
Short stature with endocrinopathy NGS panel
Del Dup
NGS
SOX9
Campomelic dysplasia
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
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
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type XVII
NGS
Sanger
Del Dup
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
NGS
Del Dup
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
Del Dup
NGS
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
Del Dup
NGS
ST14
Ichthyosis NGS panel
NGS
Del Dup
STAMBP
Microcephaly-capillary malformation syndrome
NGS
Del Dup
STS
Ichthyosis NGS panel
Del Dup
NGS
SUFU
Basal cell nevus syndrome - SUFU
NGS
Del Dup
Basal cell nevus syndrome NGS panel
Del Dup
NGS
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
SULT2B1
Ichthyosis NGS panel
NGS
Del Dup
SUMO1
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS

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