Test Catalogue by Gene | Connective Tissue Gene Tests

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

C

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

C1R
Connective tissue disorder 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, periodontal type NGS panel	Del Dup NGS

C1S
Connective tissue disorder 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, periodontal type NGS panel	NGS Del Dup

C21orf2
Axial spondylometaphyseal dysplasia NGS panel	Del Dup NGS
Skeletal ciliopathy NGS panel	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

C2CD3
Joubert syndrome and related disorders NGS panel	NGS Del Dup
Skeletal ciliopathy NGS panel	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy 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

CA2
Nephrolithiasis and related disorders NGS panel	Del Dup NGS
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	Del Dup NGS

CABP4
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup

CACNA1C
Brugada syndrome and related disorders NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	Del Dup NGS
Long QT syndrome NGS panel	Del Dup NGS
Short QT syndrome NGS panel	Del Dup NGS

CACNA2D1
Brugada syndrome and related disorders NGS panel	Del Dup NGS
Cardiac channelopathy NGS panel	NGS Del Dup
Short QT syndrome NGS panel	NGS Del Dup

CACNB2
Brugada syndrome and related disorders NGS panel	NGS Del Dup
Cardiac channelopathy NGS panel	Del Dup NGS
Short QT syndrome NGS panel	Del Dup NGS

CALM1
Cardiac channelopathy NGS panel	Del Dup NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel	Del Dup NGS
Long QT syndrome NGS panel	Del Dup NGS

CALM2
Cardiac channelopathy NGS panel	NGS Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel	NGS Del Dup
Long QT syndrome NGS panel	NGS Del Dup

CALM3
Cardiac channelopathy NGS panel	Del Dup NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel	Del Dup NGS
Long QT syndrome NGS panel	Del Dup NGS

CANT1
Desbuquois dysplasia 1	Del Dup NGS
Desbuquois dysplasia and related disorders NGS panel	NGS Del Dup
Desbuquois dysplasia core NGS panel	Del Dup NGS
Multiple epiphyseal dysplasia (MED) NGS panel	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup

CAPN3
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

CAPN5
Exudative vitreoretinopathy NGS panel	NGS Del Dup
Vitreoretinopathy NGS panel	NGS Del Dup

CASP14
Ichthyosis NGS panel	NGS Del Dup

CASQ2
Cardiac channelopathy NGS panel	Del Dup NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel	Del Dup NGS

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

CAST
Epidermolysis bullosa NGS panel	Del Dup NGS
Ichthyosis NGS panel	NGS Del Dup
Peeling skin syndrome NGS panel	Del Dup NGS

CAV1
Pulmonary hypertension NGS panel	NGS Del Dup
Pulmonary hypertension, primary, 3	NGS Sanger Del Dup
Vascular malformations NGS panel	NGS Del Dup

CAV3
Brugada syndrome and related disorders NGS panel	NGS Del Dup
Cardiac channelopathy NGS panel	NGS Del Dup
Distal Myopathy NGS panel	NGS Del Dup
Limb girdle muscular dystrophy NGS panel	Del Dup NGS
Long QT syndrome NGS panel	NGS Del Dup

CBL
Noonan spectrum disorder NGS panel	Del Dup NGS
Noonan syndrome core NGS panel	Del Dup NGS

CBS
Connective tissue disorder NGS panel	NGS Del Dup
Fibrillinopathy NGS panel	NGS Del Dup
Homocystinuria	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup

CC2D2A
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Nephronophthisis and related disorders NGS panel	Del Dup NGS

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

CCND2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus 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	NGS Del Dup

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

CDH1
Blepharocheilodontic syndrome NGS panel	Del Dup NGS

CDK5
Lissencephaly and related disorders NGS panel	NGS Del Dup
Lissencephaly core NGS panel	NGS Del Dup

CDSN
Epidermolysis bullosa NGS panel	NGS Del Dup
Hypotrichosis NGS panel	NGS Del Dup
Ichthyosis NGS panel	Del Dup NGS
Peeling skin syndrome NGS panel	NGS Del Dup

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

CEP120
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	NGS Del Dup

CEP152
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

CEP164
Nephronophthisis and related disorders NGS panel	NGS Del Dup

CEP290
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup
Nephronophthisis and related disorders NGS panel	NGS Del Dup

CEP41
Joubert syndrome and related disorders NGS panel	NGS Del Dup
Nephronophthisis and related disorders NGS panel	NGS Del Dup

CEP63
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

CEP83
Nephronophthisis and related disorders NGS panel	NGS Del Dup

CERS3
Ichthyosis NGS panel	NGS Del Dup

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	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	NGS Del Dup

CHMP2B
Amyotrophic lateral sclerosis and related disorders NGS panel	NGS Del Dup

CHRNA1
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Lethal congenital contracture syndrome and related disorders NGS Panel	Del Dup NGS
Multiple pterygium syndrome, lethal type - CHRNA1	Del Dup NGS
Multiple pterygium syndrome, lethal type NGS panel	Del Dup NGS

CHRND
Congenital contracture syndrome extended NGS panel	NGS Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel	Del Dup NGS
Multiple pterygium syndrome, lethal type - CHRND	NGS Del Dup
Multiple pterygium syndrome, lethal type NGS panel	NGS Del Dup

CHRNG
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Lethal congenital contracture syndrome and related disorders NGS Panel	Del Dup NGS
Multiple pterygium syndrome, lethal type & Escobar variant	Del Dup NGS
Multiple pterygium syndrome, lethal type NGS panel	Del Dup NGS

CHST14
Connective tissue disorder NGS panel	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	Del Dup NGS
Ehlers-Danlos syndrome, musculocontractural type, 1	Del Dup NGS

CHST3
Desbuquois dysplasia and related disorders NGS panel	NGS Del Dup
Larsen syndrome, autosomal recessive	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup
Spondyloepiphyseal dysplasia with congenital joint dislocations	NGS Del Dup

CHST8
Epidermolysis bullosa NGS panel	Del Dup NGS
Ichthyosis NGS panel	Del Dup NGS
Peeling skin syndrome NGS panel	Del Dup NGS

CLCN5
Abnormal mineralization disorders NGS panel	NGS Del Dup
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

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	Del Dup NGS

CLCNKA
Bartter syndrome and related disorders NGS panel	Del Dup NGS

CLCNKB
Bartter syndrome and related disorders NGS panel	Del Dup NGS

CLDN16
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

CLDN19
Nephrolithiasis and related disorders NGS panel	NGS Del Dup

CLUAP1
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup

CNGA3
Leber congenital amaurosis and related disorders NGS panel	Del Dup NGS

CNTNAP1
Congenital contracture syndrome extended NGS panel	NGS Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel	NGS Del Dup

COL10A1
Metaphyseal chondrodysplasia, Schmid type	Del Dup NGS Sanger
Skeletal dysplasia and skeletal ciliopathy NGS panel	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	Del Dup NGS

COL11A1
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS
Fibrochondrogenesis 1	NGS Del Dup
Fibrochondrogenesis NGS panel	Del Dup NGS
Marshall syndrome	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	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	NGS Del Dup

COL11A2
Cleft lip, cleft palate and related disorders NGS panel	NGS Del Dup
Fibrochondrogenesis 2	Del Dup NGS
Fibrochondrogenesis NGS panel	Del Dup NGS
Otospondylomegaepiphyseal dysplasia	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	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
Connective tissue disorder NGS panel	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	NGS Del Dup

COL17A1
Epidermolysis bullosa NGS panel	Del Dup NGS

COL18A1
Knobloch syndrome 1	Del Dup NGS
Vitreoretinopathy NGS panel	Del Dup NGS

COL1A1
Caffey disease	NGS Del Dup
Connective tissue disorder NGS panel	Del Dup NGS
Dense bone dysplasia 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, arthrochalasia type NGS panel	NGS Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 NGS 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	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 and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia core NGS panel	NGS Del Dup

COL1A2
Connective tissue disorder 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
Ehlers-Danlos syndrome, arthrochalasia type NGS panel	Del Dup NGS
Osteogenesis imperfecta COL1A1 & COL1A2 NGS 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
Skeletal dysplasia and skeletal ciliopathy NGS panel	NGS Del Dup
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia core NGS panel	Del Dup NGS

COL27A1
Steel syndrome	NGS Del Dup

COL2A1
Achondrogenesis NGS panel	Del Dup NGS
Achondrogenesis, type II / Hypochondrogenesis	NGS Del Dup
Avascular necrosis of femoral head, primary	Del Dup NGS
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS
Czech dysplasia	NGS Del Dup
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	Sanger Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy 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
Spondyloepimetaphyseal dysplasia, Strudwick type	Del Dup NGS
Spondyloepiphyseal dysplasia congenita	Del Dup NGS
Spondyloperipheral dysplasia	Sanger Del Dup NGS
Stickler syndrome core NGS panel	NGS Del Dup
Stickler syndrome NGS panel	NGS Del Dup
Stickler syndrome, type I	Del Dup NGS
Vitreoretinopathy NGS panel	Del Dup NGS

COL3A1
Connective tissue disorder NGS panel	Del Dup NGS
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	NGS Del Dup
Ehlers-Danlos syndrome, vascular type	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	Del Dup NGS

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

COL4A2
Cerebral small vessel disease NGS panel	Del Dup NGS
Porencephaly 2	NGS Del Dup
Porencephaly NGS panel	Del Dup NGS

COL4A3
Alport syndrome NGS panel	NGS Del Dup
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

COL4A4
Alport syndrome NGS panel	Del Dup NGS
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

COL4A5
Alport syndrome NGS panel	NGS Del Dup
Alport syndrome, X-linked	Del Dup NGS
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

COL4A6
Alport syndrome NGS panel	Del Dup NGS
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

COL5A1
Connective tissue disorder NGS panel	Del Dup NGS
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, classic type, I	NGS Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	Del Dup NGS

COL5A2
Connective tissue disorder NGS panel	Del Dup NGS
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	NGS Del Dup
Ehlers-Danlos syndrome, classic type NGS panel	Del Dup NGS
Ehlers-Danlos syndrome, classic type, 2	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup

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	Del Dup NGS

COL7A1
Epidermolysis bullosa dystrophica, autosomal dominant & recessive	Del Dup NGS
Epidermolysis bullosa NGS panel	NGS Del Dup

COL9A1
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS
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

COL9A2
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS
Multiple epiphyseal dysplasia (MED) NGS panel	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup
Stickler syndrome NGS panel	NGS Del Dup
Stickler syndrome NGS panel - Recessive	NGS Del Dup
Vitreoretinopathy NGS panel	Del Dup NGS

COL9A3
Cleft lip, cleft palate and related disorders NGS panel	NGS Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel	NGS Del Dup
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
Multiple epiphyseal dysplasia (MED) NGS panel	NGS Del Dup
Pseudoachondroplasia	NGS Del Dup
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	NGS Del Dup

COX6A1
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

CPLANE1 (C5orf42)
Joubert syndrome and related disorders NGS panel	Del Dup NGS

CRB1
Leber congenital amaurosis and related disorders NGS panel	Del Dup NGS

CRB2
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

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

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 NGS

CRX
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup

CRYAB
Distal Myopathy NGS panel	Del Dup NGS
Myofibrillar myopathy and related disorders NGS panel	NGS Del Dup

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	Del Dup NGS

CSTA
Epidermolysis bullosa NGS panel	Del Dup NGS
Ichthyosis NGS panel	Del Dup NGS
Peeling skin syndrome NGS panel	NGS Del Dup

CTC1
Cerebral small vessel disease NGS panel	Del Dup NGS
Dyskeratosis congenita NGS panel	Del Dup NGS

CTNND1
Blepharocheilodontic syndrome NGS panel	Del Dup NGS

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

CUBN
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

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

CYCS
Thrombocytopenia NGS Panel	NGS Del Dup

CYP24A1
Nephrolithiasis and related disorders NGS panel	Del Dup NGS

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	Del Dup NGS

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