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

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
Del Dup
NGS
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
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
SERPINA1
Alpha-1-antitrypsin deficiency
Sanger
Del Dup
SERPINF1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
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
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
SF3B4
Acrofacial dysostosis 1, Nager type
Del Dup
Sanger
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
NGS
Del Dup
SGCD
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
SGCG
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
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
Del Dup
Sanger
Short stature, idiopathic, X-linked
Del Dup
Sanger
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
Del Dup
NGS
Shprintzen-Goldberg craniosynostosis syndrome
Sanger
Del Dup
SLC24A4
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
SLC26A2
Achondrogenesis NGS panel
NGS
Del Dup
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
Sanger
Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
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
Del Dup
Sanger
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
NGS
Del Dup
SLC34A3
Abnormal mineralization disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
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
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
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
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
NGS
Del Dup
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
NGS
Del Dup
SMAD9
Pulmonary hypertension NGS panel
Del Dup
NGS
Pulmonary hypertension, primary, 2
Sanger
Del Dup
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
Del Dup
NGS
SMC3
Cornelia de Lange syndrome NGS panel
NGS
Del Dup
SMOC2
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
SMS
Snyder-Robinson mental retardation syndrome
Sanger
SNX10
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis 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
Del Dup
NGS
Hyperostosis corticalis generalisata (Van Buchem disease)
Sanger
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Sclerosteosis
Sanger
Del Dup
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
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type XVII
Sanger
Del Dup
SPRED1
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
Noonan spectrum disorder NGS panel
Del Dup
NGS
SQSTM1
Paget disease of bone 3
Sanger
Del Dup
Paget disease of bone and related disorders NGS panel
Del Dup
NGS
SRC
Thrombocytopenia NGS Panel
Del Dup
NGS
STAMBP
Microcephaly-capillary malformation syndrome
Del Dup
Sanger
STS
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
SUFU
Basal cell nevus syndrome - SUFU
Sanger
Del Dup
Basal cell nevus syndrome NGS panel
Del Dup
NGS

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