MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Analysis ID 57
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
OMIM #310200
Clinical information MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD – genetic, degenerative disorder with progressive and irreversible muscular atrophy. This is one of the most common recessive X-linked disorder. The incidence in boys is approximately 1 in 3500 livebirths. DMD is caused by mutations in the dystrophin gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes DMD; dystrophin
Analysis description Identification of intragenic copy number changes (duplications, deletions) in the dystrophin gene by means of MLPA.
Analysis indication Symptoms of DMD
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics