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

SATB2
Glass syndrome
Sanger
Del Dup
SBDS
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
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
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
SERPINA1
Alpha-1-antitrypsin deficiency
Del Dup
Sanger
SERPINB8
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel - Nonsyndromic
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
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
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
Sanger
Del Dup
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
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
Del Dup
NGS
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
Del Dup
Sanger
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, SIX2 related
Sanger
Del Dup
SKI
Craniosynostosis NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
NGS
Del Dup
Shprintzen-Goldberg craniosynostosis syndrome
NGS
Del Dup
SLC24A4
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
SLC26A2
Achondrogenesis NGS panel
NGS
Del Dup
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
Del Dup
NGS
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 - Fixed
Del Dup
NGS
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
Del Dup
NGS
SLC35D1
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
NGS
Del Dup
SLC39A13
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, spondylocheiro dysplastic form
NGS
Del Dup
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
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
SMAD3
Loeys-Dietz syndrome 3
Sanger
Del Dup
Loeys-Dietz syndrome NGS panel
NGS
Del Dup
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 - 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
NGS
Del Dup
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Del Dup
Sanger
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
NGS
Del Dup
SMAD9
Pulmonary hypertension NGS panel
Del Dup
NGS
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
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
Del Dup
NGS
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
Del Dup
NGS
SOST
Craniodiaphyseal dysplasia, autosomal dominant
Sanger
Del Dup
Dense bone dysplasia NGS panel
Del Dup
NGS
Hyperostosis corticalis generalisata (Van Buchem disease)
Sanger
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Sclerosteosis
Sanger
Del Dup
SOX10
Waardenburg syndrome NGS panel
Del Dup
NGS
SOX9
Campomelic dysplasia
Del Dup
Sanger
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
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
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
SPG11
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
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
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
ST14
Ichthyosis NGS panel - Nonsyndromic
NGS
Del Dup
STAMBP
Microcephaly-capillary malformation syndrome
Sanger
Del Dup
STS
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
SUFU
Basal cell nevus syndrome - SUFU
Del Dup
Sanger
Basal cell nevus syndrome NGS panel
NGS
Del Dup

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