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):3245-76. doi: 10.3390/ijms13033245. Epub 2012 Mar 8.


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.

Keywords: CNV; MLPA; gene copy number; genetic disease; molecular diagnosis.

Publication types

  • Review

MeSH terms

  • DNA Copy Number Variations*
  • DNA Methylation
  • Female
  • Gene Deletion
  • Gene Dosage*
  • Gene Duplication
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Male
  • Molecular Diagnostic Techniques / methods
  • Multiplex Polymerase Chain Reaction / methods*
  • Mutation
  • Neoplasms / diagnosis
  • Neoplasms / genetics
  • Neuromuscular Diseases / diagnosis
  • Neuromuscular Diseases / genetics
  • Pregnancy
  • Prenatal Diagnosis / methods