| 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 |
- Centrum Genetyki Medycznej GENESIS
- Dla pacjentów
- Dla lekarzy
- Dla placówek medycznych
- Umów się na badania
All rights reserved 2010 Center of Medical Genetics GENESIS Created by vmr strony internetowe