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.

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

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

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
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.