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

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
NGS
Del Dup
Thrombocytopenia NGS Panel
NGS
Del Dup
NDE1
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Lissencephaly core NGS panel
Del Dup
NGS
NDP
Exudative vitreoretinopathy 2, X-linked
NGS
Sanger
Del Dup
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Norrie disease
Del Dup
NGS
Sanger
Vitreoretinopathy NGS panel
Del Dup
NGS
NDRG1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
NECTIN1
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
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 dysplasia 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
Del Dup
NGS
NF2
Neurofibromatosis and related disorders NGS panel
NGS
Del Dup
Noonan spectrum disorder NGS panel
NGS
Del Dup
NFIX
Marshall-Smith syndrome
Del Dup
NGS
Overgrowth syndrome NGS panel
NGS
Del Dup
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
Del Dup
NGS
NIPBL
Cornelia de Lange syndrome 1
NGS
Del Dup
Cornelia de Lange syndrome and related disorders NGS panel
NGS
Del Dup
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
Del Dup
NGS
NKX3-2
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondylo-megaepiphyseal-metaphyseal dysplasia
NGS
Sanger
Del Dup
NMNAT1
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
NOP10
Dyskeratosis congenita NGS panel
Del Dup
NGS
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
NGS
Del Dup
Aortic valve disease 1
NGS
Del Dup
Congenital heart disease 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
NGS
Del Dup
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
Del Dup
NGS
Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy 1
Del Dup
NGS
Cerebral small vessel disease NGS panel
NGS
Del Dup
Lateral meningocele syndrome
Del Dup
NGS
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
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
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
Del Dup
NGS
NR2F2
Congenital heart disease NGS panel
Del Dup
NGS
NRAS
Noonan spectrum disorder NGS panel
Del Dup
NGS
Noonan syndrome core NGS panel
Del Dup
NGS
NSD1
Overgrowth syndrome NGS panel
Del Dup
NGS
Sotos syndrome 1
NGS
Del Dup
Sotos syndrome and related disorders NGS panel
Del Dup
NGS
NSDHL
Chondrodysplasia punctata and related disorders 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
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
NGS
Del Dup
NXN
Robinow syndrome NGS panel
NGS
Del Dup

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