Duchenne Muscular Dystrophy

Genetic testing for dystrophinopathies is recommended as part of routine clinical practice since a genetic diagnosis allows: confirmation of a clinical diagnosis ensuring appropriate care and follow up; access to personalised treatments; carrier identification and family planning.1

Duchenne muscular dystrophy, is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects males and is caused by mutations / deletions in the dystrophin gene. MLPA (Multiplex Ligation-dependent Probe Amplification) is a technique used for DMD testing. MLPA allows for the detection of large deletions or duplications in the dystrophin gene, which are common mutations associated with DMD.

When should you get tested?

Test specification

Technique Variant types TAT Sample requirements
MLPA INDEL 3 - 4 weeks 2 ml EDTA Blood / 2 ug DNA


  1. Fratter, C., Dalgleish, R., Allen, S.K. et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet 28, 1141–1159 (2020).