Facioscapulohumeral muscular dystrophy-1A
Analysis ID 242
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Facioscapulohumeral muscular dystrophy-1A
OMIM #158900
Clinical information Facioscapulohumeral muscular dystrophy is the third most common hereditary muscular disease, after Duchenne and myotonic dystrophy. It is a highly variable disorder with muscle weakness appearing from infancy till late adulthood, but typically in the second decade. In general, the disease initially affects the face and scapulae, followed by the foot dorsiflexors and the lower limb girdle. Typical features include striking asymmetry of muscle involvement and retained strength of bulbar extra-ocular and respiratory muscles.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes 4q35
Analysis description Identification of duplications or deletions in the 4q35 region with use of MLPA method
Analysis indication Symptoms of facioscapulohumeral muscular dystrophy
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders