Muscular dystrophy, limb-girdle, type 2A / LGMD2A
Analysis ID 282
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Muscular dystrophy, limb-girdle, type 2A / LGMD2A
OMIM #253600
Clinical information Type 2A limb-girdle muscular dystrophy (LGMD2A) is an autosomal recessive disorder characterized by proximal adult-onset muscles weakening and atrophy, followed by weakening of shoulder muscles. Distal muscle weakness can occur at later stage. LGMD2A is caused by mutations in CAPN3 gene.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes CAPN3
Analysis description Analysis of selected fragment (containing the most common mutation) of the CAPN3 gene
Analysis indication Symptoms of limb-girdle muscular dystrophy
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders