Deletion, duplication, point and other small mutations can cause Duchenne muscular dystrophy1,3,4
Knowing the mutation type can be helpful for medical management options, and the possibility of enrolling into clinical trials.4,5
Large mutations can be detected using multiplex ligation-dependent probe amplification (MLPA). Small deletions, such as nonsense mutations, require gene sequencing. 4
Only genetic testing can identify the dystrophin gene mutation type; this is important for genetic counselling, prenatal diagnosis and considering mutation-specific therapies
(excluding UK and Ireland)
I am a Healthcare Professional
Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis
Please ensure all questions are answered before submitting
When providing your feedback, no personal information will be collected, linked or shared with other parties, websites or social media platforms.
Thank you for submitting your response!
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.