MLPA (Multiplex Ligation-dependent Probe Amplification) is a new technique that allows for the detection of deletions and duplications in multiple DNA or RNA sequences simultaneously. It is a cheap and simple method that can identify very small genetic defects. The document outlines how MLPA can be used to diagnose Prader-Willi syndrome, which involves analyzing samples for microdeletions, uniparental disomy, and imprinting defects through techniques like FISH, methylation analysis, and karyotyping. MLPA is particularly useful as a screening test for these types of genetic abnormalities associated with Prader-Willi syndrome.

1. NEW TECHNIQUES OF DIAGNOSIS IN PRADER - WILLI SYNDROME Assist. Prof. CRISTINA RUSU, MD PhD “ Gr T Popa” University of Medicine and Pharmacy Medical Genetics Department Iasi, Romania

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