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	Del Dup NGS

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

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

LAMB2
Nephrotic syndrome and related disorders NGS panel	NGS Del Dup

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

LAMC2
Epidermolysis bullosa NGS panel	Del Dup NGS

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

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

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

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

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

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

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

LHX3
Short stature with endocrinopathy NGS panel	NGS Del Dup

LHX4
Short stature with endocrinopathy NGS panel	Del Dup NGS

LIFR
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia extended NGS panel	NGS Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS
Stuve-Wiedemann syndrome	NGS Del Dup

LIG4
Microcephalic primordial dwarfism NGS panel	NGS Del Dup

LIMS2
Limb girdle muscular dystrophy NGS panel	Del Dup NGS

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

LIPH
Hypotrichosis NGS panel	Del Dup NGS

LIPN
Ichthyosis NGS panel	NGS Del Dup

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

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

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

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

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

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

LOXL3
Stickler syndrome NGS panel	Del Dup NGS

LPAR6
Hypotrichosis NGS panel	NGS Del Dup

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

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

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

LRP6
Oligodontia - Selective tooth agenesis NGS panel	NGS Del Dup

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

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

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

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

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

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

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