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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C

C12ORF65
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

C1R
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	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	Del Dup NGS

C5orf42
Joubert syndrome and related disorders NGS panel	Del Dup NGS

CA2
Osteopetrosis and Dense bone dysplasia NGS panel	NGS Del Dup
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	NGS 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	NGS Del Dup
Vitreoretinopathy NGS panel	Del Dup NGS

CASP14
Ichthyosis NGS panel - Nonsyndromic	Del Dup NGS

CASR
Abnormal mineralization disorders NGS panel	NGS Del Dup
Hyperparathyroidism, neonatal severe	Sanger Del Dup
Hypocalcemia, autosomal dominant 1	Del Dup Sanger
Hypocalcemia, autosomal dominant 1, with Bartter syndrome	Del Dup Sanger
Hypocalciuric hypercalcemia, familial, type 1	Del Dup Sanger

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	NGS Del Dup
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	Del Dup NGS

CC2D2A
Joubert syndrome and related disorders NGS panel	Del Dup NGS

CCDC8
Three M syndrome 3	Sanger Del Dup
Three M syndrome NGS panel	NGS Del Dup

CCM2
Cerebral cavernous malformations 2	NGS Del Dup
Cerebral cavernous malformations NGS panel	NGS Del Dup
Vascular malformations NGS panel	NGS Del Dup

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	NGS Del Dup

CDC45
Craniosynostosis NGS panel	NGS Del Dup
Meier-Gorlin syndrome NGS panel	Del Dup NGS
Microcephalic primordial dwarfism NGS panel	NGS Del Dup

CDC6
Meier-Gorlin syndrome 5	Del Dup NGS
Meier-Gorlin syndrome NGS panel	Del Dup NGS
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

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

CDT1
Meier-Gorlin syndrome 4	Del Dup NGS
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	NGS Del Dup

CEP152
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

CEP290
Joubert syndrome and related disorders NGS panel	NGS Del Dup

CEP41
Joubert syndrome and related disorders NGS panel	NGS Del Dup

CEP63
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

CERS3
Ichthyosis NGS panel - Nonsyndromic	NGS Del Dup

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	Del Dup NGS

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	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	Del Dup NGS
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 NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup
Spondyloepiphyseal dysplasia with congenital joint dislocations	Del Dup NGS

CHST8
Epidermolysis bullosa NGS panel	Del Dup NGS
Ichthyosis NGS panel - Nonsyndromic	Del Dup NGS

CLCN5
Abnormal mineralization disorders NGS panel	Del Dup NGS

CLCN7
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis core NGS panel	Del Dup NGS
Osteopetrosis NGS panel	Del Dup NGS
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	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup

COL11A1
Fibrochondrogenesis 1	NGS Del Dup
Fibrochondrogenesis NGS panel	NGS Del Dup
Marshall syndrome	Del Dup NGS
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 II	Del Dup NGS
Vitreoretinopathy NGS panel	Del Dup NGS

COL11A2
Fibrochondrogenesis 2	Del Dup NGS
Fibrochondrogenesis NGS panel	Del Dup NGS
Otospondylomegaepiphyseal dysplasia	Del Dup NGS
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	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	Del Dup NGS

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	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	Del Dup NGS
Osteogenesis imperfecta, types I, II, III & IV	Del Dup NGS
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	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	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	Del Dup NGS
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	NGS Del Dup
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	Del Dup NGS
Ehlers-Danlos syndrome, type IV	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

COL4A1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	NGS Del Dup
Brain small vessel disease with or without ocular anomalies	Del Dup NGS
Porencephaly 1	Del Dup NGS
Porencephaly NGS panel	Del Dup NGS

COL4A2
Porencephaly 2	Del Dup NGS
Porencephaly NGS panel	NGS Del Dup

COL4A3
Alport syndrome NGS panel	NGS Del Dup

COL4A4
Alport syndrome NGS panel	NGS Del Dup

COL4A5
Alport syndrome NGS panel	Del Dup NGS
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	NGS Del Dup

COL5A2
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 - (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	Del Dup NGS

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	Del Dup NGS
Stickler syndrome NGS panel - Recessive	Del Dup NGS
Vitreoretinopathy NGS panel	NGS Del Dup

COL9A2
Multiple epiphyseal dysplasia (MED) NGS panel	NGS Del Dup
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

COL9A3
Multiple epiphyseal dysplasia (MED) NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup
Stickler syndrome NGS panel	Del Dup NGS
Stickler syndrome NGS panel - Recessive	Del Dup NGS
Vitreoretinopathy NGS panel	NGS Del Dup

COMP
Multiple epiphyseal dysplasia	Del Dup NGS Sanger
Multiple epiphyseal dysplasia (MED) NGS panel	Del Dup NGS
Pseudoachondroplasia	Del Dup NGS Sanger
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup

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	Del Dup NGS

CRB2
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

CREB3L1
Osteogenesis imperfecta NGS panel - Dominant & Recessive	NGS Del Dup
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type XVI	NGS Del Dup

CREBBP
Rubinstein-Taybi syndrome 1	Del Dup NGS
Rubinstein-Taybi syndrome NGS panel	NGS Del Dup

CRTAP
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type VII	Sanger Del Dup

CRYAB
Distal Myopathy	NGS Del Dup
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	NGS Del Dup

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

CTC1
Dyskeratosis congenita NGS panel	Del Dup NGS

CTSK
Osteopetrosis and Dense bone dysplasia NGS panel	NGS Del Dup
Osteopetrosis NGS panel	NGS Del Dup
Pycnodysostosis	Sanger Del Dup

CUBN
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

CUL7
Three M syndrome 1	NGS Del Dup
Three M syndrome NGS panel	Del Dup NGS

CYCS
Thrombocytopenia NGS Panel	NGS Del Dup

CYP26B1
Craniosynostosis NGS panel	NGS Del Dup

CYP27B1
Abnormal mineralization disorders NGS panel	Del Dup NGS
Rickets, vitamin D-dependent type I	Del Dup NGS

CYP4F22
Ichthyosis NGS panel - Nonsyndromic	NGS Del Dup

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