Use of the MLPA Assay in the Molecular Diagnosis of GeneCopy Number Alterations in Human Genetic Diseases

Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently
developed technique able to evidence variations in the copy number of several human
genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic
diseases whose pathogenesis is related to the presence of deletions or duplications of
specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of
genetic diseases characterized by the presence of abnormal DNA methylation. Due to the
large number of genes that can be analyzed by a single technique, MLPA assay represents
the gold standard for molecular analysis of all pathologies derived from the presence of
gene copy number variation. In this review, the main applications of the MLPA technique
for the molecular diagnosis of human diseases are described.