Genetic testing for Duchenne muscular dystrophy

Genetic testing is the only method for determining a patient’s specific mutation type.1,2 This is important because a specific genetic diagnosis may help identify medical management options and potential to enrol into clinical trials.2

Additionally, once a mutation is identified, female relatives can find out their carrier status. This is important for two main reasons:2

number 1

Female carriers can pass on Duchenne muscular dystrophy to their children

number 2

Female carriers need medical assessment and follow-up

A genetic diagnosis involves two types of tests

First-level testing1,3
  • The majority of mutations (~70%) are detected by multiplex ligation-dependent probe amplification (MLPA)
  • MLPA can detect both large deletions and large duplications in patients and carriers
Second-level testing1
  • If no mutation is found, gene sequencing should be performed
  • Only gene sequencing can definitely detect smaller mutation types. These mutations include point mutations (nonsense or missense), small deletions, and small duplications or insertions

How to accurately diagnose Duchenne muscular dystrophy1,2

Adapted from references 1, 4 and 5

Genetic testing is the only way to determine the specific mutation causing Duchenne muscular dystrophy and could help patients get on the right treatment pathway1,2

1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
2. Aartsma-Rus A, et al. J Med Genet. 2016;53:145–151.
3. Verma PK, et al. Indian J Hum Genet. 2012;18:91–94.
4. Aartsma-Rus A, et al. J Pediatr. 2019;2014:305–313.e14.
5. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: childmuscleweakness.org [last accessed November 2020].

Our Use of Cookies

In addition to cookies that are necessary to operate this website, we use optional cookies to provide website functionality and give you the best possible experience. We won't set optional cookies unless you enable them. For more detailed information see our Cookie Statement , which explains among others, how to set your cookie preferences and how to recall your consent.

Cookie Settings

Some cookies are essential, others help us improve your experience by providing insights into how the website is used. Select the cookie types listed below, and then save your preferences. Refer to our Cookie Statement for more information.

Strictly Necessary cookies
Strictly necessary cookies enable core functionality such as security, network management, and accessibility.

I accept the advertising/targeting cookies
Advertising/targeting cookies, which we use to track user activity and sessions so that we can deliver a more personalized service, and (in the case of advertising cookies) which are set by the third parties with whom we execute advertising campaigns and allow us to provide advertisements relevant to you.