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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LAMA2
Lissencephaly and related disorders NGS panel	NGS Del Dup

LAMA3
Amelogenesis imperfecta and related disorders NGS panel	Del Dup NGS
Epidermolysis bullosa NGS panel	Del Dup NGS

LAMB1
Lissencephaly and related disorders NGS panel	NGS Del Dup
Lissencephaly core NGS panel	Del Dup NGS

LAMB2
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

LAMB3
Amelogenesis imperfecta and related disorders NGS panel	Del Dup NGS
Epidermolysis bullosa NGS panel	Del Dup NGS

LAMC2
Epidermolysis bullosa NGS panel	Del Dup NGS

LARGE1
Limb girdle muscular dystrophy NGS panel	Del Dup NGS
Lissencephaly and related disorders NGS panel	Del Dup NGS

LBR
Chondrodysplasia punctata and related disorders NGS panel	NGS Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	NGS Del Dup
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia extended NGS panel	NGS Del Dup

LCA5
Leber congenital amaurosis and related disorders NGS panel	Del Dup NGS

LDB3
Distal Myopathy NGS panel	Del Dup NGS
Myofibrillar myopathy and related disorders NGS panel	NGS Del Dup

LEMD3
Buschke-Ollendorff syndrome	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis NGS panel	Del Dup NGS

LFNG
Spondylocostal dysostosis 3, autosomal recessive	NGS Sanger Del Dup
Spondylocostal dysostosis NGS panel	Del Dup NGS

LGI4
Congenital contracture syndrome extended NGS panel	NGS Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel	NGS Del Dup

LHX3
Short stature with endocrinopathy NGS panel	Del Dup NGS

LHX4
Short stature with endocrinopathy NGS panel	Del Dup NGS

LIFR
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
Spondylo-Epi-Metaphyseal dysplasias NGS panel	NGS Del Dup
Stuve-Wiedemann syndrome	Del Dup NGS

LIG4
Microcephalic primordial dwarfism NGS panel	Del Dup NGS

LIMS2
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

LIPA
Lysosomal acid lipase deficiency	Del Dup NGS Sanger
Wolman disease	NGS Sanger Del Dup

LIPH
Hypotrichosis NGS panel	NGS Del Dup

LIPN
Ichthyosis NGS panel	Del Dup NGS

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

LMNA
Atrial fibrillation NGS panel	Del Dup NGS
Atrioventricular block NGS Panel	Del Dup NGS
Charcot-Marie-Tooth disease NGS panel	NGS Del Dup
Congenital contracture syndrome extended NGS panel	Del Dup NGS
Lethal congenital contracture syndrome and related disorders NGS Panel	Del Dup NGS
Limb girdle muscular dystrophy NGS panel	NGS Del Dup
Progeroid syndromes and related disorders NGS panel	Del Dup NGS
Restrictive dermopathy, lethal NGS panel	NGS Del Dup

LMX1B
Nail-patella syndrome	NGS Del Dup
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

LONP1
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

LOR
Erythrokeratodermias and related disorders NGS panel	Del Dup NGS
Ichthyosis NGS panel	Del Dup NGS

LOX
Connective tissue disorder NGS panel	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	Del Dup NGS

LOXL3
Stickler syndrome NGS panel	NGS Del Dup

LPAR6
Hypotrichosis NGS panel	Del Dup NGS

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

LRP4
Dense bone dysplasia NGS panel	NGS Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS

LRP5
Exudative vitreoretinopathy 4	Del Dup NGS
Exudative vitreoretinopathy NGS panel	Del Dup NGS
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus	Del Dup NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive	NGS Del Dup
Osteogenesis imperfecta NGS panel - Recessive	NGS Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis NGS panel	NGS Del Dup
Osteopetrosis, autosomal dominant 1	Del Dup NGS
Osteoporosis-pseudoglioma syndrome	Del Dup NGS
Polycystic kidney disease and related disorders NGS panel	NGS Del Dup
Polycystic liver disease NGS panel	Del Dup NGS
Van Buchem disease, type 2	NGS Del Dup
Vitreoretinopathy NGS panel	Del Dup NGS

LRP6
Oligodontia - Selective tooth agenesis NGS panel	Del Dup NGS

LRSAM1
Charcot-Marie-Tooth disease NGS panel	NGS Del Dup

LTBP2
Weill-Marchesani syndrome 3	NGS Del Dup
Weill-Marchesani syndrome NGS panel	NGS Del Dup

LTBP3
Connective tissue disorder NGS panel	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	Del Dup NGS
Oligodontia - Selective tooth agenesis NGS panel	Del Dup NGS

LTBP4
Cutis laxa NGS panel	Del Dup NGS
Cutis laxa, autosomal recessive IC	NGS Del Dup

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

LZTR1
Noonan spectrum disorder NGS panel	NGS Del Dup
Noonan syndrome core NGS panel	NGS Del Dup

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