Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy.
Tatiana BuitragoMary García-AceroMariana Guerra-TorresTatiana PinedaTatiana GámezFernando Suárez-ObandoReggie García-RoblesPaola AyalaPublished in: The journal of applied laboratory medicine (2023)
In cases of abnormal peak ratio results of MLPA in a single exon, it would be valuable to sequence the DMD gene to assess whether variants in the probe hybridization site might result in a false positive that could be interpreted as an exon deletion.