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

C12ORF65
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
C1R
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
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
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, periodontal type NGS panel
NGS
Del Dup
C21orf2
Axial spondylometaphyseal dysplasia NGS panel
NGS
Del Dup
Skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
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
Del Dup
NGS
C3
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
C4ORF26
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
C5orf42
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
CA2
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
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
NGS
Del Dup
CABP4
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
CACNA1C
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
NGS
Del Dup
Short QT syndrome NGS panel
NGS
Del Dup
CACNA2D1
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
Short QT syndrome NGS panel
Del Dup
NGS
CACNB2
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
Short QT syndrome NGS panel
Del Dup
NGS
CALM1
Cardiac channelopathy NGS panel
NGS
Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel
NGS
Del Dup
Long QT syndrome NGS panel
NGS
Del Dup
CALM2
Cardiac channelopathy NGS panel
NGS
Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS
CALM3
Cardiac channelopathy NGS panel
Del Dup
NGS
Catecholaminergic polymorphic ventricular tachycardia NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
NGS
Del Dup
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
NGS
Del Dup
CAPN5
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
CASP14
Ichthyosis NGS panel
Del Dup
NGS
CASQ2
Cardiac channelopathy NGS panel
NGS
Del Dup
Catecholaminergic polymorphic ventricular tachycardia NGS panel
NGS
Del Dup
CASR
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Bartter syndrome and related disorders NGS panel
Del Dup
NGS
Hyperparathyroidism, neonatal severe
Del Dup
NGS
Sanger
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
Del Dup
NGS
Peeling skin syndrome NGS panel
Del Dup
NGS
CAV1
Pulmonary hypertension NGS panel
NGS
Del Dup
Pulmonary hypertension, primary, 3
Del Dup
NGS
Sanger
Vascular malformations NGS panel
NGS
Del Dup
CAV3
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
Distal Myopathy NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Long QT syndrome NGS panel
Del Dup
NGS
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
Del Dup
NGS
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
NGS
Del Dup
CCND2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
Del Dup
NGS
CD2AP
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
CD36
Platelet bleeding disorders NGS panel
Del Dup
NGS
CD46
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CDC45
Craniosynostosis NGS panel
Del Dup
NGS
Meier-Gorlin syndrome NGS panel
NGS
Del Dup
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CDC6
Meier-Gorlin syndrome 5
NGS
Del Dup
Meier-Gorlin syndrome NGS panel
Del Dup
NGS
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CDH1
Blepharocheilodontic syndrome NGS panel
Del Dup
NGS
CDK5
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Lissencephaly core NGS panel
Del Dup
NGS
CDSN
Epidermolysis bullosa NGS panel
Del Dup
NGS
Hypotrichosis NGS panel
Del Dup
NGS
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
NGS
Del Dup
CENPJ
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CEP104
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
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
Del Dup
NGS
CEP152
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
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
NGS
Del Dup
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
NGS
Del Dup
CFHR1
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
CFHR2
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
NGS
Del Dup
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
Del Dup
NGS
CFI
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Del Dup
NGS
CHCHD10
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
CHD7
CHARGE syndrome
Del Dup
NGS
Congenital heart disease NGS panel
Del Dup
NGS
CHMP2B
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
CHRNA1
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 - CHRNA1
NGS
Del Dup
Multiple pterygium syndrome, lethal type NGS panel
NGS
Del Dup
CHRND
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 - CHRND
Del Dup
NGS
Multiple pterygium syndrome, lethal type NGS panel
Del Dup
NGS
CHRNG
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 & Escobar variant
NGS
Del Dup
Multiple pterygium syndrome, lethal type NGS panel
NGS
Del Dup
CHST14
Connective tissue disorder NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, musculocontractural type, 1
NGS
Del Dup
CHST3
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Larsen syndrome, autosomal recessive
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondyloepiphyseal dysplasia with congenital joint dislocations
NGS
Del Dup
CHST8
Epidermolysis bullosa NGS panel
NGS
Del Dup
Ichthyosis NGS panel
NGS
Del Dup
Peeling skin syndrome NGS panel
Del Dup
NGS
CLCN5
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
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
CLCNKA
Bartter syndrome and related disorders NGS panel
Del Dup
NGS
CLCNKB
Bartter syndrome and related disorders NGS panel
NGS
Del Dup
CLDN16
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
CLDN19
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
CLUAP1
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
CNGA3
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
CNTNAP1
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
Del Dup
NGS
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
NGS
Del Dup
COL11A1
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
Fibrochondrogenesis 1
NGS
Del Dup
Fibrochondrogenesis NGS panel
NGS
Del Dup
Marshall syndrome
Del Dup
NGS
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
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
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
COL17A1
Epidermolysis bullosa NGS panel
Del Dup
NGS
COL18A1
Knobloch syndrome 1
NGS
Del Dup
Vitreoretinopathy NGS panel
Del Dup
NGS
COL1A1
Caffey disease
NGS
Del Dup
Connective tissue disorder NGS panel
NGS
Del Dup
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, arthrochalasia type NGS panel
NGS
Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 NGS 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
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 and skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
NGS
Del Dup
COL1A2
Connective tissue disorder 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 NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, arthrochalasia type NGS panel
Del Dup
NGS
Osteogenesis imperfecta COL1A1 & COL1A2 NGS 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
NGS
Del Dup
Osteogenesis imperfecta, types I, II, III & IV
Del Dup
NGS
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
COL27A1
Steel syndrome
Del Dup
NGS
COL2A1
Achondrogenesis NGS panel
NGS
Del Dup
Achondrogenesis, type II / Hypochondrogenesis
NGS
Del Dup
Avascular necrosis of femoral head, primary
NGS
Del Dup
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
Czech dysplasia
Del Dup
NGS
Kniest dysplasia
NGS
Del Dup
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 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
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondyloepimetaphyseal dysplasia, Strudwick type
NGS
Del Dup
Spondyloepiphyseal dysplasia congenita
NGS
Del Dup
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
Connective tissue disorder NGS panel
NGS
Del Dup
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, vascular type
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
COL4A3
Alport syndrome NGS panel
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COL4A4
Alport syndrome NGS panel
NGS
Del Dup
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
COL4A5
Alport syndrome NGS panel
Del Dup
NGS
Alport syndrome, X-linked
NGS
Del Dup
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COL4A6
Alport syndrome NGS panel
NGS
Del Dup
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
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, classic type NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome, classic type, I
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
COL5A2
Connective tissue disorder NGS panel
NGS
Del Dup
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, classic type, 2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
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
Del Dup
NGS
COL7A1
Epidermolysis bullosa dystrophica, autosomal dominant & recessive
Del Dup
NGS
Epidermolysis bullosa NGS panel
Del Dup
NGS
COL9A1
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
Del Dup
NGS
Stickler syndrome NGS panel - Recessive
Del Dup
NGS
Vitreoretinopathy NGS panel
NGS
Del Dup
COL9A2
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
COL9A3
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
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
COMP
Multiple epiphyseal dysplasia
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Pseudoachondroplasia
Del Dup
NGS
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
Del Dup
NGS
COQ8B
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COX6A1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
CRB1
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
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
NGS
Del Dup
Osteogenesis imperfecta, type XVI
NGS
Del Dup
CREBBP
Rubinstein-Taybi syndrome 1
Del Dup
NGS
Rubinstein-Taybi syndrome NGS panel
Del Dup
NGS
CRTAP
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
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
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
Del Dup
NGS
CSTA
Epidermolysis bullosa NGS panel
Del Dup
NGS
Ichthyosis NGS panel
Del Dup
NGS
Peeling skin syndrome NGS panel
Del Dup
NGS
CTC1
Cerebral small vessel disease NGS panel
NGS
Del Dup
Dyskeratosis congenita NGS panel
NGS
Del Dup
CTNND1
Blepharocheilodontic syndrome NGS panel
NGS
Del Dup
CTSK
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
Pycnodysostosis
Del Dup
NGS
Sanger
CUBN
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
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
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
NGS
Del Dup

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