Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis
Abstract
Introduction: Recently, Molecular diagnosis of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) has become increasingly important in the management of these patients, with techniques such as multiplex ligation-dependent amplification (MLPA) and next-generation sequencing (NGS) coming to the fore. Therefore, this study aims to evaluate the diagnostic accuracy of MLPA, NGS, and the algorithm MLPA-NGS for confirmatory diagnosis of DMD/BMD.
Methods: We systematically searched databases (PubMed, Embase, Scopus, Cochrane and Web of Science) until July 2025 for studies evaluating the diagnostic accuracy of MLPA and/or NGS testing in patients with clinical suspicion of DMD, considering multiplex PCR or biopsy as the reference test. A meta-analysis was performed using a random-effects model to estimate the sensitivity, specificity, and detection rate of each test. The QUADAS-2 tool was used to assess the risk of bias and the GRADE criteria were used to identify the certainty of evidence.
Results: We included 10 studies (3786 patients) evaluating the use of MLPA and 14 studies (4333 patients) evaluating the use of NGS. For MLPA, the sensitivity was 0.80 (95%CI: 0.76-0.84; I2: 86%), the specificity was 0.93 (95%CI: 0.87-0.96; I2: 16%), and AUC 0.90 (CI-95%: 0.89-0.92). For NGS, the detection rate was 0.77 (95% CI: 0.61-0.87; I2: 94%). Furthermore, the detection rate increased to 0.97 (95% CI: 0.94-0.99; I2: 95%) when NGS was performed after MLPA. We observe a low…
How strong is the evidence?
Evidence Hub reads this as a meta-analysis, done in people. Its evidence level is 1 of 5 (Highest · pooled evidence). Pooled evidence from several studies sits at the top of the evidence pyramid. Reported size: 4,333 participants or records.
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