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 |