Duchenne/Becker muscular dystrophy. Deletions and duplications of the DMD gene by MLPA [1 gene]

  • Hereditary disorder. Duchenne muscular dystrophy is a form of muscular dystrophy, which involves muscle weakness and worsens quickly. Other muscular dystrophies (including Becker muscular dystrophy) worsen much more slowly.
  • It allows detecting large deletions and duplications, not point mutations.
  • Causes: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a muscle protein). However, it often occurs in people with families with no known history of this condition.
  • The condition most often affects male children because of the way the disease is inherited. Sons of women who are carriers of the disease (women with a defective chromosome, but who do not have symptoms) each have a 50% chance of having the disease, and daughters each have a 50% chance of being carriers. On very rare occasions, a woman may be affected by the disease.
  • Duchenne muscular dystrophy occurs in approximately 1 in every 3,600 males. Because it is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.

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Duchenne/Becker muscular dystrophy. Deletions and duplications of the DMD gene by MLPA

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Technique: MLPA

Turnaround time (TAT): 20 days

Ref. S-201805109

Duchenne/Becker muscular dystrophy. Deletions and duplications of the DMD gene by MLPA: View panel
  • DMD

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.