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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NAGLU
Mucopolysaccharidosis NGS panel	NGS Del Dup

NALCN
Congenital contracture syndrome extended NGS panel	NGS Del Dup
Distal arthrogryposes NGS panel	NGS Del Dup

NANS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

NBEAL2
Platelet bleeding disorders NGS panel	NGS Del Dup
Thrombocytopenia NGS Panel	Del Dup NGS

NDE1
Lissencephaly and related disorders NGS panel	Del Dup NGS
Lissencephaly core NGS panel	Del Dup NGS

NDP
Exudative vitreoretinopathy 2, X-linked	Del Dup NGS Sanger
Exudative vitreoretinopathy NGS panel	Del Dup NGS
Norrie disease	NGS Sanger Del Dup
Vitreoretinopathy NGS panel	Del Dup NGS

NDRG1
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

NECTIN1
Cleft lip, cleft palate and related disorders NGS panel	Del Dup NGS

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

NEK1
Axial spondylometaphyseal dysplasia NGS panel	NGS Del Dup
Short-rib thoracic dysplasia 6 with or without polydactyly	Del Dup NGS
Skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup

NEK8
Nephronophthisis and related disorders NGS panel	Del Dup NGS

NEK9
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Lethal congenital contracture syndrome and related disorders NGS Panel	Del Dup NGS

NF1
Neurofibromatosis and related disorders NGS panel	Del Dup NGS
Neurofibromatosis type I	Del Dup NGS
Noonan spectrum disorder NGS panel	NGS Del Dup

NF2
Neurofibromatosis and related disorders NGS panel	NGS Del Dup
Noonan spectrum disorder NGS panel	Del Dup NGS

NFIX
Marshall-Smith syndrome	NGS Del Dup
Overgrowth syndrome NGS panel	NGS Del Dup
Sotos syndrome 2	NGS Del Dup
Sotos syndrome and related disorders NGS panel	Del Dup NGS

NHP2
Dyskeratosis congenita NGS panel	NGS Del Dup

NIN
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

NIPAL4
Ichthyosis NGS panel	Del Dup NGS

NIPBL
Cornelia de Lange syndrome 1	NGS Del Dup
Cornelia de Lange syndrome and related disorders NGS panel	Del Dup NGS

NKX2-5
Atrioventricular block NGS Panel	NGS Del Dup
Congenital heart disease NGS panel	Del Dup NGS
NKX2-5 related heart malformations	NGS Sanger Del Dup

NKX2-6
Congenital heart disease NGS panel	Del Dup NGS

NKX3-2
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
Spondylo-megaepiphyseal-metaphyseal dysplasia	Del Dup NGS Sanger

NMNAT1
Leber congenital amaurosis and related disorders NGS panel	NGS Del Dup

NOP10
Dyskeratosis congenita NGS panel	NGS Del Dup

NOS1AP
Cardiac channelopathy NGS panel	NGS Del Dup
Long QT syndrome NGS panel	NGS Del Dup

NOTCH1
Adams-Oliver syndrome 5	NGS Del Dup
Adams-Oliver syndrome NGS panel	Del Dup NGS
Aortic valve disease 1	NGS Del Dup
Congenital heart disease NGS panel	Del Dup NGS
Connective tissue disorder NGS panel	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	NGS Del Dup

NOTCH2
Alagille syndrome 2	Del Dup NGS
Alagille syndrome NGS panel	NGS Del Dup
Congenital heart disease NGS panel	Del Dup NGS
Hajdu-Cheney syndrome	Del Dup NGS
Polycystic kidney disease and related disorders NGS panel	NGS Del Dup
Serpentine fibula-polycystic kidney syndrome	Del Dup NGS

NOTCH3
CADASIL NGS panel	NGS Del Dup
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1	NGS Del Dup
Cerebral small vessel disease NGS panel	NGS Del Dup
Lateral meningocele syndrome	NGS Del Dup

NPHP1
Joubert syndrome and related disorders NGS panel	Del Dup NGS
Nephronophthisis and related disorders NGS panel	Del Dup NGS

NPHP3
Joubert syndrome and related disorders NGS panel	NGS Del Dup
Nephronophthisis and related disorders NGS panel	NGS Del Dup
Polycystic kidney disease and related disorders NGS panel	NGS Del Dup

NPHP4
Nephronophthisis and related disorders NGS panel	Del Dup NGS

NPHS1
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

NPHS2
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

NPPA
Atrial fibrillation NGS panel	Del Dup NGS

NPR2
Acromesomelic dysplasia, Maroteaux type	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

NR2E3
Vitreoretinopathy NGS panel	NGS Del Dup

NR2F2
Congenital heart disease NGS panel	Del Dup NGS

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

NSD1
Overgrowth syndrome NGS panel	Del Dup NGS
Sotos syndrome 1	Del Dup NGS
Sotos syndrome and related disorders NGS panel	Del Dup NGS

NSDHL
Chondrodysplasia punctata and related disorders NGS panel	Del Dup NGS
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

NSUN2
Noonan spectrum disorder NGS panel	NGS Del Dup

NUP107
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

NUP155
Atrial fibrillation NGS panel	Del Dup NGS

NUP205
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

NUP93
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

NXN
Robinow syndrome NGS panel	NGS Del Dup

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