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

NAGLU
Mucopolysaccharidosis NGS panel
NGS
Del Dup
NALCN
Distal arthrogryposes NGS panel
NGS
Del Dup
NANS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
NBEAL2
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
NGS
Del Dup
NDP
Exudative vitreoretinopathy 2, X-linked
Del Dup
Sanger
Exudative vitreoretinopathy NGS panel
NGS
Del Dup
Norrie disease
Del Dup
Sanger
Vitreoretinopathy NGS panel
Del Dup
NGS
NDRG1
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
NEFL
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
NEK1
Short-rib thoracic dysplasia 6 with or without polydactyly
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel
Del Dup
NGS
NF1
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
Neurofibromatosis type I
NGS
Del Dup
Noonan spectrum disorder NGS panel
NGS
Del Dup
NF2
Neurofibromatosis and related disorders NGS panel
Del Dup
NGS
Noonan spectrum disorder NGS panel
Del Dup
NGS
NFIX
Marshall-Smith syndrome
NGS
Del Dup
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel
NGS
Del Dup
Sotos syndrome 2
NGS
Del Dup
NHP2
Dyskeratosis congenita NGS panel
NGS
Del Dup
NIN
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
NIPAL4
Ichthyosis NGS panel - Nonsyndromic
Del Dup
NGS
NIPBL
Cornelia de Lange syndrome 1
Del Dup
NGS
Cornelia de Lange syndrome NGS panel
Del Dup
NGS
NKX2-5
Congenital heart disease NGS panel
NGS
Del Dup
NKX2-5 related heart malformations
Del Dup
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
NGS
Del Dup
Spondylo-megaepiphyseal-metaphyseal dysplasia
Sanger
Del Dup
NOP10
Dyskeratosis congenita 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
Del Dup
NGS
Congenital heart disease NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
NGS
Del Dup
NOTCH2
Alagille syndrome 2
NGS
Del Dup
Alagille syndrome NGS panel
Del Dup
NGS
Congenital heart disease NGS panel
NGS
Del Dup
Hajdu-Cheney syndrome
NGS
Sanger
Del Dup
Serpentine fibula-polycystic kidney syndrome
NGS
Del Dup
NOTCH3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
Del Dup
NGS
Lateral meningocele syndrome
NGS
Sanger
Del Dup
NPHP1
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
NPHP3
Joubert syndrome 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
NPR2
Acromesomelic dysplasia, Maroteaux type
Sanger
Del Dup
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
NSD1
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel
Del Dup
NGS
Sotos syndrome 1
NGS
Del Dup
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
NGS
Del Dup
NUP107
Nephrotic syndrome and related disorders 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

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