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

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

Search Tests

TIP: enter a partial disorder name or gene to widen your search