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

C12ORF65
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
C1R
Ehlers-Danlos syndrome NGS panel - Dominant
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, periodontal type NGS panel
Del Dup
NGS
C1S
Ehlers-Danlos syndrome NGS panel - Dominant
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, periodontal type 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
NGS
Del Dup
C5orf42
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CA2
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
Osteopetrosis with renal tubular acidosis 3
NGS
Del Dup
CABIN1
Noonan spectrum disorder NGS panel
NGS
Del Dup
CANT1
Desbuquois dysplasia 1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Desbuquois dysplasia core NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
CAPN3
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
CAPN5
Exudative vitreoretinopathy NGS panel
NGS
Del Dup
Vitreoretinopathy NGS panel
Del Dup
NGS
CASP14
Ichthyosis NGS panel - Nonsyndromic
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
Sanger
Del Dup
Hypocalciuric hypercalcemia, familial, type 1
Sanger
Del Dup
CAV1
Pulmonary hypertension NGS panel
NGS
Del Dup
Pulmonary hypertension, primary, 3
Del Dup
Sanger
Vascular malformations NGS panel
NGS
Del Dup
CAV3
Distal Myopathy
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
CBL
Noonan spectrum disorder NGS panel
Del Dup
NGS
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
NGS
Del Dup
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
NGS
Cerebral cavernous malformations NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
CD2AP
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
CD36
Platelet bleeding disorders NGS panel
NGS
Del Dup
CD46
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
CDC45
Craniosynostosis NGS panel
Del Dup
NGS
Meier-Gorlin syndrome NGS panel
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CDC6
Meier-Gorlin syndrome 5
Del Dup
NGS
Meier-Gorlin syndrome NGS panel
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
CDSN
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel - Nonsyndromic
NGS
Del Dup
CDT1
Meier-Gorlin syndrome 4
NGS
Del Dup
Meier-Gorlin syndrome NGS panel
NGS
Del Dup
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CENPJ
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
CEP104
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CEP152
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
CEP290
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CEP41
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
CEP63
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
CERS3
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
CFB
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
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
Del Dup
NGS
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
CHCHD10
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
CHD7
CHARGE syndrome
NGS
Del Dup
Congenital heart disease NGS panel
Del Dup
NGS
CHMP2B
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
CHRNA1
Multiple pterygium syndrome, lethal type
Del Dup
Sanger
Multiple pterygium syndrome, lethal type - CHRNA1
Del Dup
Sanger
CHRND
Multiple pterygium syndrome, lethal type
Sanger
Del Dup
Multiple pterygium syndrome, lethal type - CHRND
Del Dup
Sanger
CHRNG
Multiple pterygium syndrome, Escobar variant
Sanger
Del Dup
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
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, musculocontractural type
Del Dup
Sanger
CHST3
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Larsen syndrome, autosomal recessive
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepiphyseal dysplasia with congenital joint dislocations
Del Dup
NGS
CHST8
Epidermolysis bullosa NGS panel
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic
NGS
Del Dup
CLCN5
Abnormal mineralization disorders NGS panel
Del Dup
NGS
CLCN7
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis core NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4
NGS
Del Dup
COL10A1
Metaphyseal chondrodysplasia, Schmid type
Sanger
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
Del Dup
NGS
COL11A1
Fibrochondrogenesis 1
NGS
Del Dup
Fibrochondrogenesis NGS panel
Del Dup
NGS
Marshall syndrome
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Stickler syndrome core NGS panel
Del Dup
NGS
Stickler syndrome NGS panel
Del Dup
NGS
Stickler syndrome, type II
NGS
Del Dup
Vitreoretinopathy NGS panel
NGS
Del Dup
COL11A2
Fibrochondrogenesis 2
NGS
Del Dup
Fibrochondrogenesis NGS panel
Del Dup
NGS
Otospondylomegaepiphyseal dysplasia
NGS
Del Dup
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
Del Dup
NGS
Stickler syndrome, type III
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
Weissenbacher-Zweymuller syndrome
NGS
Del Dup
COL12A1
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
COL17A1
Epidermolysis bullosa NGS panel
Del Dup
NGS
COL18A1
Knobloch syndrome 1
NGS
Del Dup
Vitreoretinopathy NGS panel
NGS
Del Dup
COL1A1
Caffey disease
Sanger
Dense bone dysplasia NGS panel
Del Dup
NGS
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
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta, types I, II, III & IV
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
NGS
Del Dup
COL1A2
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
Del Dup
NGS
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
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
NGS
Del Dup
COL27A1
Steel syndrome
NGS
Sanger
Del Dup
COL2A1
Achondrogenesis NGS panel
Del Dup
NGS
Achondrogenesis, type II / Hypochondrogenesis
Del Dup
NGS
Avascular necrosis of femoral head, primary
NGS
Del Dup
Czech dysplasia
NGS
Sanger
Del Dup
Kniest dysplasia
NGS
Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Osteoarthritis with mild chondrodysplasia
NGS
Del Dup
Platyspondylic lethal skeletal dysplasia, Torrance type
NGS
Sanger
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepimetaphyseal dysplasia, Strudwick type
NGS
Del Dup
Spondyloepiphyseal dysplasia congenita
NGS
Del Dup
Spondyloperipheral dysplasia
Del Dup
NGS
Sanger
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
Del Dup
NGS
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
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
COL4A1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
NGS
Del Dup
Brain small vessel disease with or without ocular anomalies
NGS
Del Dup
Porencephaly 1
Del Dup
NGS
Porencephaly NGS panel
Del Dup
NGS
COL4A2
Porencephaly 2
Del Dup
NGS
Porencephaly NGS panel
Del Dup
NGS
COL4A3
Alport syndrome NGS panel
NGS
Del Dup
COL4A4
Alport syndrome NGS panel
NGS
Del Dup
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
NGS
Del Dup
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
NGS
Del Dup
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
NGS
Del Dup
COMP
Multiple epiphyseal dysplasia
Del Dup
NGS
Sanger
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
NGS
Del Dup
COQ6
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
COQ8B
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
COX6A1
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
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
Del Dup
NGS
CREBBP
Rubinstein-Taybi syndrome 1
Del Dup
NGS
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
Distal Myopathy
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel
Del Dup
NGS
CSGALNACT1
Desbuquois dysplasia and related disorders NGS panel
Del Dup
NGS
Desbuquois dysplasia core NGS panel
Del Dup
NGS
CSPP1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
CSTA
Epidermolysis bullosa NGS panel
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
CTC1
Dyskeratosis congenita NGS panel
NGS
Del Dup
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
Del Dup
NGS
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
NGS
Del Dup

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