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	Del Dup NGS

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

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

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

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

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

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

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

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

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

NEK8
Nephronophthisis and related disorders NGS panel	NGS Del Dup

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

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

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

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

NHP2
Dyskeratosis congenita NGS panel	Del Dup NGS

NIN
Microcephalic primordial dwarfism NGS panel	NGS Del Dup

NIPAL4
Ichthyosis NGS panel	NGS Del Dup

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

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

NKX2-6
Congenital heart disease NGS panel	NGS Del Dup

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

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

NOP10
Dyskeratosis congenita NGS panel	Del Dup NGS

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

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

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

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

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

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

NPHP4
Nephronophthisis and related disorders NGS panel	NGS Del Dup

NPHS1
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

NPHS2
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

NPPA
Atrial fibrillation NGS panel	NGS Del Dup

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

NR2E3
Vitreoretinopathy NGS panel	Del Dup NGS

NR2F2
Congenital heart disease NGS panel	NGS Del Dup

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

NSD1
Overgrowth syndrome NGS panel	NGS Del Dup
Sotos syndrome 1	NGS Del Dup
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	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia extended NGS panel	NGS Del Dup

NSUN2
Noonan spectrum disorder NGS panel	Del Dup NGS

NUP107
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

NUP155
Atrial fibrillation NGS panel	Del Dup NGS

NUP205
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

NUP93
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

NXN
Robinow syndrome NGS panel	Del Dup NGS

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