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?

• DMD testing is recommended when a male individual presents with clinical symptoms suggestive of muscular dystrophy, such as progressive muscle weakness, delayed motor milestones, calf muscle hypertrophy (enlarged calf muscles), or difficulty walking.
• When there is a family history of the disorder.
• Elevated levels of creatine kinase (CK), an enzyme released from damaged muscles, may be an indicator of muscle pathology.
• Abnormal Muscle Biopsy
• DMD testing may be recommended for females with a family history of DMD to determine if they carry a mutation in the dystrophin gene.

Test specification

References:

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).