Duchenne Muscular Dystrophy & Becker Muscular Dystrophy

Background

Deletions and duplications of the DMD gene are frequent causes of DMD/BMD. Deletions account for 60-70% and duplications for about 5-10% of cases. Detection of these imbalances are routinely used in diagnostic testing of symptomatic individuals or those that are at risk of being carriers. DMD has a prevalence of 2.9 per 10,000 male births and BMD has a prevalence of 0.5 per 10,000 male births.
 

Testing at WRGL

Multiplex ligation-dependent probe amplification (MLPA) using the two commercially available probe sets (P034-B2 and P035-B1) is used to determine if there is a deletion or duplication present. The MLPA product can be visualised using fragment analysis on the 3130 Genetic Analyser. Results are compared with appropriate controls. A small proportion of cases will require further testing which is not offered at WRGL and samples can be forwarded to another laboratory if additional testing is required/necessary.
 

Cost, Sample Requirements & Turnaround Times