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
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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