MLPA analysis - application in the diagnostic activity of the medical geneticist

The article is mainly focused on physicians (hospital clinicians, family doctors) without specific experience in medical genetics, whose patients present with a probable genetic condition. We present the essence, possibilities and limitations of multiplex ligase-dependent amplification (MLPA) as a method for establishing a genetic diagnosis. The article describes cases from the experience of the Laboratory of Medical Genetics, Varna in the application of the method as a target and/or screening test in children with dysmorphic features and/or mental retardation. We emphasize on the role of the medical geneticist in patient selection, the choice of analysis, and comment on the results.