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.
Laczmańska I, Jakubiak A, Slęzak R, Pesz K, Stembalska A, Laczmański L et all. Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology. Med Wieku Rozwoj Apr-Jun 2011;15(2):132-9.
Martínez F, Caro-Llopis A, Roselló M, et al. High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. Journal of Medical Genetics 2017;54:87-92.
Patch C, Middleton A. Genetic counselling in the era of genomic medicine. Br Med Bull. 2018 Jun; 126(1): 27–36.
Stuppia L, Antonucci I, Palka G, Gatta V. Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases. Int J Mol Sci. 2012; 13(3): 3245–3276.
Watson C, Marques-Bonet T, Sharp A, Mefford H. The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet. 2014;15:215-244.
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