Description
Duchenne/Becker muscular dystrophy belongs to X-linked recessive hereditary diseases and is caused by a mutation in the gene encoding the dystrophin protein (DMD gene). The dystrophin gene consists of 79 exons – it is one of the largest human genes, located on the X-chromosome (locus Xp21.2). In muscular dystrophy, mutations (most often deletions) of one or several exons of the gene are detected, less frequently – point mutations or duplications. In this study, mutations of exons 1-10, 21-30, 41-50, 61-70 are analyzed. The test allows identifying mutations in the dystrophin gene that are responsible for the development of the most common cause of muscular system damage at a young age.
Period of execution
Within 10 days. The specified time does not include the day of biomaterial collection
Biomaterial type