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

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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