Duchenne/Becker Muscular Dystrophy (DMD/BMD) Gene Mutation

This test looks for deletions and duplications in the dystrophin (DMD) gene, the most common causes of Duchenne and Becker muscular dystrophy.

What the test looks for

Duchenne and Becker muscular dystrophy are inherited conditions that cause progressive muscle weakness. Both are caused by changes in the DMD gene, which makes dystrophin, a protein that protects muscle fibres. The gene is on the X chromosome, so the conditions mainly affect boys, while women can be carriers.

Most cases are caused by a deletion or duplication of one or more exons (sections) of the gene. The lab uses MLPA to check all 79 exons for these changes. MLPA does not detect very small changes, such as single-letter changes, which need gene sequencing.

Who might consider it

• Boys whose doctor suspects Duchenne or Becker muscular dystrophy, for example because of muscle weakness, frequent falls or a raised CK (creatine kinase) level
• Mothers, sisters and female relatives of an affected boy who want to know whether they are carriers
• Families with a known DMD deletion or duplication

Before you book

The test uses one blood sample. Our team can collect it at your home or office anywhere in Dubai, or you can visit our lab in Al Karama or Al Barsha 1. The lab asks for a signed consent form and your relevant medical history with the sample, as it does for all genetic tests. Results are usually ready in 15–20 days.

Understanding your results

The report says whether a deletion or duplication was found and which exons are involved. In a boy with symptoms, a positive result confirms the diagnosis, and the exact exons help doctors predict whether it behaves more like Duchenne or Becker. In a woman, it shows carrier status. A negative result does not rule out the condition if small changes are suspected. Please discuss results with a neurologist or genetic counsellor.