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

C12ORF65
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
C1R
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, 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
Del Dup
NGS
Skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
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
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
Del Dup
NGS
Osteopetrosis with renal tubular acidosis 3
Del Dup
NGS
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
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
NGS
Del Dup
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
Del Dup
NGS
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
NGS
Del Dup
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
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
NGS
Del Dup
Multiple epiphyseal dysplasia (MED) NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
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
NGS
Del Dup
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
NGS
Del Dup
Hyperparathyroidism, neonatal severe
Sanger
Del Dup
NGS
Hypocalcemia, autosomal dominant 1
NGS
Sanger
Del Dup
Hypocalciuric hypercalcemia, familial, type 1
Del Dup
NGS
Sanger
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
CAST
Epidermolysis bullosa NGS panel
NGS
Del Dup
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
Del Dup
NGS
Cardiac channelopathy NGS panel
NGS
Del Dup
Distal Myopathy NGS panel
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
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
Del Dup
NGS
Fibrillinopathy NGS panel
Del Dup
NGS
Homocystinuria
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
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
NGS
Sanger
Del Dup
Three M syndrome NGS panel
Del Dup
NGS
CCM2
Cerebral cavernous malformations 2
Del Dup
NGS
Cerebral cavernous malformations NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
CCND2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
NGS
Del Dup
CD2AP
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
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
NGS
Del Dup
Meier-Gorlin syndrome NGS panel
NGS
Del Dup
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
NGS
Del Dup
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
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
NGS
Del Dup
CEP152
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CEP164
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
CEP290
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
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
Del Dup
NGS
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
CEP63
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
CEP83
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
CERS3
Ichthyosis NGS panel
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
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
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
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
NGS
Del Dup
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
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
Del Dup
NGS
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
NGS
Del Dup
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
Del Dup
NGS
COL10A1
Metaphyseal chondrodysplasia, Schmid type
Sanger
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
Del Dup
NGS
COL11A1
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
Fibrochondrogenesis 1
NGS
Del Dup
Fibrochondrogenesis NGS panel
Del Dup
NGS
Marshall syndrome
NGS
Del Dup
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
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
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
Fibrochondrogenesis 2
Del Dup
NGS
Fibrochondrogenesis NGS panel
NGS
Del Dup
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
NGS
Del Dup
Stickler syndrome, type III
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
Weissenbacher-Zweymuller syndrome
Del Dup
NGS
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
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
COL17A1
Epidermolysis bullosa NGS panel
NGS
Del Dup
COL18A1
Knobloch syndrome 1
NGS
Del Dup
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
NGS
Del Dup
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
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 and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
Del Dup
NGS
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
Del Dup
NGS
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
NGS
Del Dup
Achondrogenesis, type II / Hypochondrogenesis
Del Dup
NGS
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
Del Dup
NGS
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
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
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
NGS
Del Dup
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
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
COL4A5
Alport syndrome NGS panel
Del Dup
NGS
Alport syndrome, X-linked
Del Dup
NGS
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
NGS
Del Dup
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
NGS
Del Dup
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
NGS
Del Dup
COL6A3
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel
NGS
Del Dup
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
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
NGS
Del Dup
Stickler syndrome NGS panel - Recessive
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS
COL9A3
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
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
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
Del Dup
NGS
COX6A1
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
CRB1
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
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
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
NGS
Sanger
Del Dup
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
Del Dup
NGS
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
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
Del Dup
NGS
Osteopetrosis NGS panel
NGS
Del Dup
Pycnodysostosis
NGS
Sanger
Del Dup
CUBN
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
CUL7
Three M syndrome 1
Del Dup
NGS
Three M syndrome NGS panel
Del Dup
NGS
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
Del Dup
NGS
CYP4F22
Ichthyosis NGS panel
Del Dup
NGS

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