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

C12ORF65
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
C3
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
C4ORF26
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
C5orf42
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
CA2
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis with renal tubular acidosis 3
NGS
Del Dup
CABIN1
Noonan spectrum disorder NGS panel
Del Dup
NGS
CANT1
Desbuquois dysplasia 1
Sanger
Del Dup
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Desbuquois dysplasia core NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
CAPN3
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
CAPN5
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
CASR
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Hyperparathyroidism, neonatal severe
Del Dup
Sanger
Hypocalcemia, autosomal dominant 1
Del Dup
Sanger
Hypocalcemia, autosomal dominant 1, with Bartter syndrome
Del Dup
Sanger
Hypocalciuric hypercalcemia, familial, type 1
Sanger
Del Dup
CAV1
Pulmonary hypertension NGS panel
Del Dup
NGS
Pulmonary hypertension, primary, 3
Sanger
Del Dup
Vascular malformations NGS panel
Del Dup
NGS
CAV3
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
CBL
Noonan spectrum disorder NGS panel
NGS
Del Dup
CBS
Fibrillinopathy NGS panel
Del Dup
NGS
Homocystinuria
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
Del Dup
NGS
CC2D2A
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CCDC8
Three M syndrome 3
Del Dup
Sanger
Three M syndrome NGS panel
NGS
Del Dup
CCM2
Cerebral cavernous malformations 2
Del Dup
Sanger
Cerebral cavernous malformations NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
CD2AP
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
CD36
Platelet bleeding disorders NGS panel
NGS
Del Dup
CD46
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CDC45
Craniosynostosis NGS panel
NGS
Del Dup
Meier-Gorlin syndrome NGS panel
NGS
Del Dup
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
CDC6
Meier-Gorlin syndrome 5
Sanger
Del Dup
Meier-Gorlin syndrome NGS panel
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CDT1
Meier-Gorlin syndrome 4
Del Dup
Sanger
Meier-Gorlin syndrome NGS panel
NGS
Del Dup
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
CENPJ
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CEP104
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CEP152
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CEP290
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CEP41
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CEP63
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CERS3
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
CFB
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CFH
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CFHR1
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CFHR2
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CFHR3
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
CFHR5
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
CFI
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
CHD7
CHARGE syndrome
Del Dup
NGS
Congenital heart disease NGS panel
Del Dup
NGS
CHRNA1
Multiple pterygium syndrome, lethal type
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRNA1
Del Dup
Sanger
CHRND
Multiple pterygium syndrome, lethal type
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRND
Sanger
Del Dup
CHRNG
Multiple pterygium syndrome, Escobar variant
Del Dup
Sanger
Multiple pterygium syndrome, lethal type
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRNG
Sanger
Del Dup
CHST14
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, musculocontractural type
Sanger
Del Dup
CHST3
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Larsen syndrome, autosomal recessive
Del Dup
Sanger
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepiphyseal dysplasia with congenital joint dislocations
Del Dup
Sanger
CLCN5
Abnormal mineralization disorders NGS panel
Del Dup
NGS
CLCN7
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis core NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4
Del Dup
NGS
COL10A1
Metaphyseal chondrodysplasia, Schmid type
Del Dup
Sanger
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
COL11A1
Fibrochondrogenesis 1
Del Dup
NGS
Fibrochondrogenesis NGS panel
NGS
Del Dup
Marshall syndrome
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
Del Dup
NGS
Stickler syndrome core NGS panel
Del Dup
NGS
Stickler syndrome NGS panel
NGS
Del Dup
Stickler syndrome, type II
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
COL11A2
Fibrochondrogenesis 2
Del Dup
NGS
Fibrochondrogenesis NGS panel
NGS
Del Dup
Otospondylomegaepiphyseal dysplasia
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Stickler syndrome core NGS panel
NGS
Del Dup
Stickler syndrome NGS panel
Del Dup
NGS
Stickler syndrome, type III
NGS
Del Dup
Vitreoretinopathy NGS panel
NGS
Del Dup
Weissenbacher-Zweymuller syndrome
Del Dup
NGS
COL17A1
Epidermolysis bullosa NGS panel
NGS
Del Dup
COL18A1
Knobloch syndrome 1
Del Dup
NGS
Vitreoretinopathy NGS panel
NGS
Del Dup
COL1A1
Caffey disease
Sanger
Dense bone dysplasia NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, type VIIA / VIIB
Sanger
Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 panel
Del Dup
NGS
Osteogenesis imperfecta core NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta, types I, II, III & IV
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
Del Dup
NGS
COL1A2
Ehlers-Danlos syndrome NGS panel - Dominant
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, type VIIA / VIIB
Sanger
Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 panel
NGS
Del Dup
Osteogenesis imperfecta core NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta, types I, II, III & IV
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
Del Dup
NGS
COL27A1
Steel syndrome
NGS
Sanger
Del Dup
COL2A1
Achondrogenesis NGS panel
Del Dup
NGS
Achondrogenesis, type II / Hypochondrogenesis
NGS
Del Dup
Avascular necrosis of femoral head, primary
NGS
Del Dup
Czech dysplasia
Del Dup
NGS
Sanger
Kniest dysplasia
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel
NGS
Del Dup
Osteoarthritis with mild chondrodysplasia
Del Dup
NGS
Platyspondylic lethal skeletal dysplasia, Torrance type
NGS
Sanger
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
Spondyloepimetaphyseal dysplasia, Strudwick type
Del Dup
NGS
Spondyloepiphyseal dysplasia congenita
Del Dup
NGS
Spondyloperipheral dysplasia
NGS
Sanger
Del Dup
Stickler syndrome core NGS panel
Del Dup
NGS
Stickler syndrome NGS panel
Del Dup
NGS
Stickler syndrome, type I
NGS
Del Dup
Vitreoretinopathy NGS panel
NGS
Del Dup
COL3A1
Ehlers-Danlos syndrome core NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, type IV
NGS
Del Dup
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
COL4A1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Del Dup
NGS
Brain small vessel disease with or without ocular anomalies
NGS
Del Dup
Porencephaly 1
NGS
Del Dup
Porencephaly NGS panel
NGS
Del Dup
COL4A2
Porencephaly 2
Del Dup
NGS
Porencephaly NGS panel
Del Dup
NGS
COL4A3
Alport syndrome NGS panel
Del Dup
NGS
COL4A4
Alport syndrome NGS panel
Del Dup
NGS
COL4A5
Alport syndrome NGS panel
NGS
Del Dup
Alport syndrome, X-linked
NGS
Del Dup
COL4A6
Alport syndrome NGS panel
Del Dup
NGS
COL5A1
Ehlers-Danlos syndrome core NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, classic type NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II - (COL5A1)
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
Del Dup
NGS
COL5A2
Ehlers-Danlos syndrome core NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, classic type NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II - (COL5A2)
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
Del Dup
NGS
COL6A1
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
Del Dup
NGS
COL6A2
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
Del Dup
NGS
COL6A3
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
NGS
Del Dup
COL7A1
Epidermolysis bullosa dystrophica, autosomal dominant & recessive
NGS
Del Dup
Epidermolysis bullosa NGS panel
NGS
Del Dup
COL9A1
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Stickler syndrome NGS panel
NGS
Del Dup
Stickler syndrome NGS panel - Recessive
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
COL9A2
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Stickler syndrome NGS panel
Del Dup
NGS
Stickler syndrome NGS panel - Recessive
Del Dup
NGS
Vitreoretinopathy NGS panel
NGS
Del Dup
COL9A3
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Stickler syndrome NGS panel
NGS
Del Dup
Stickler syndrome NGS panel - Recessive
NGS
Del Dup
Vitreoretinopathy NGS panel
Del Dup
NGS
COMP
Multiple epiphyseal dysplasia
Sanger
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Pseudoachondroplasia
NGS
Sanger
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
COQ2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COQ6
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COQ8B
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COX6A1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
CRB2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
CREB3L1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type XVI
Sanger
Del Dup
CREBBP
Rubinstein-Taybi syndrome 1
NGS
Del Dup
Rubinstein-Taybi syndrome NGS panel
NGS
Del Dup
CRTAP
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type VII
Del Dup
Sanger
CRYAB
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup
CSGALNACT1
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Desbuquois dysplasia core NGS panel
NGS
Del Dup
CSPP1
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CTC1
Dyskeratosis congenita NGS panel
Del Dup
NGS
CTSK
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
Pycnodysostosis
Sanger
Del Dup
CUBN
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
CUL7
Three M syndrome 1
Del Dup
NGS
Three M syndrome NGS panel
Del Dup
NGS
CYCS
Thrombocytopenia NGS Panel
NGS
Del Dup
CYP26B1
Craniosynostosis NGS panel
Del Dup
NGS
CYP27B1
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Rickets, vitamin D-dependent type I
NGS
Del Dup
CYP4F22
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS

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