Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.

What was studied

This systematic review and meta-analysis looked at genetic tests for Duchenne and Becker muscular dystrophy. It asked how accurate MLPA, NGS and the MLPA-then-NGS plan are for confirming diagnosis. The team searched PubMed, Embase and other sources until July 2025. The studies tested people with clinical suspicion of Duchenne dystrophy. Multiplex PCR or biopsy was the reference test. Risk of bias was rated with QUADAS-2. Certainty was rated with GRADE.

What they found

10 studies with 3786 patients tested MLPA. 14 studies with 4333 patients tested NGS. MLPA had a sensitivity of 0.80 and a specificity of 0.93. Its AUC was 0.90. NGS had a detection rate of 0.77. The detection rate rose to 0.97 when NGS followed MLPA. Risk of bias was low, but certainty was very low.

What it means for patients

They say MLPA works well in suspected DMD, but certainty is very low. They say adding NGS after a negative MLPA would improve the detection rate. They say using the tests in sequence could be considered in people with persistent suspicion.

Why it is not certain yet

Certainty in the estimates was very low. The abstract reports large differences between studies for MLPA sensitivity and NGS detection. The reference test was multiplex PCR or biopsy. A review can only be as good as the studies in it.

Source

Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.

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