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
Glass syndrome	Del Dup Sanger

SBDS
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	NGS Del Dup

SCARB2
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

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

SERPINA1
Alpha-1-antitrypsin deficiency	Del Dup Sanger

SERPINB8
Epidermolysis bullosa NGS panel	Del Dup NGS
Ichthyosis NGS panel - Nonsyndromic	Del Dup NGS

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

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

SF3B4
Acrofacial dysostosis 1, Nager type	Del Dup 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	NGS Del Dup

SGCG
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

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	Del Dup Sanger
Leri-Weill dyschondrosteosis	Del Dup Sanger
Short stature, idiopathic, X-linked	Del Dup Sanger

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

SIX2
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 - Fixed	Del Dup NGS
Shprintzen-Goldberg craniosynostosis syndrome	Del Dup NGS

SLC24A4
Amelogenesis imperfecta and related disorders NGS panel	NGS Del Dup

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

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

SLC34A1
Abnormal mineralization disorders NGS panel	Del Dup NGS

SLC34A3
Abnormal mineralization disorders NGS panel	NGS Del Dup

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	Del Dup NGS

SLC9A3R1
Abnormal mineralization 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	Del Dup NGS

SMAD3
Loeys-Dietz syndrome 3	Del Dup 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 - Fixed	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible	NGS

SMAD4
Hereditary Hemorrhagic telangiectasia NGS panel	Del Dup NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Sanger Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed	NGS Del Dup
Myhre syndrome	Sanger
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	NGS Del Dup

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 NGS panel	NGS Del Dup

SMC3
Cornelia de Lange syndrome NGS panel	NGS Del Dup

SMOC2
Amelogenesis imperfecta and related disorders NGS panel	NGS Del Dup

SMS
Snyder-Robinson mental retardation syndrome	Del Dup Sanger

SNAI2
Waardenburg 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	NGS Del Dup

SOS1
Noonan spectrum disorder NGS panel	Del Dup NGS

SOS2
Noonan spectrum disorder NGS panel	NGS Del Dup

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

SOX10
Waardenburg syndrome NGS panel	Del Dup NGS

SOX9
Campomelic dysplasia	Del Dup Sanger
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

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

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	Del Dup NGS

SQSTM1
Amyotrophic lateral sclerosis and related disorders NGS panel	Del Dup NGS
Distal Myopathy	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

ST14
Ichthyosis NGS panel - Nonsyndromic	NGS Del Dup

STAMBP
Microcephaly-capillary malformation syndrome	Sanger Del Dup

STS
Ichthyosis NGS panel - Nonsyndromic	NGS Del Dup

SUFU
Basal cell nevus syndrome - SUFU	Sanger Del Dup
Basal cell nevus syndrome NGS panel	NGS Del Dup

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