Duchenne Muscular Dystrophy (DMD) requires a molecular test or immunohistochemistry to confirm the diagnosis. However, the latter is considered too invasive to be performed routinely. Recently, Multiplex Ligand-Dependent Amplification (MLPA) has become the method of choice for initial testing. Thus, to develop a concrete approach for the diagnosis of DMD, it is necessary to know how many cases can be detected using MLPA, and how many are missed. 

We screened 105 studies for full text review from1324 in the initial search. We selected 10 studies with a total of 3786 patients suspicious for DMD/BMD. We found a detection rate of 78.33% (CI95%: 74.58 - 82.09) and un-detection rate of 21.67% (CI95%: 17.91 - 25.42). I2 was 83.73% for both. For publication bias, Egger's test was not significant (p=0.118). Finally, the GRADE approach gave a low certainty to the body of evidence, due to risk of bias and inconsistency.

We determined the detection rate of MLPA for the diagnosis of DMD/BMD suspected patients at 78%. Although with low certainty, this suggests MLPA may be adequate for initial testing.