Molecular diagnosis utility of multiplex ligation-dependent probe amplification.

Background: Multiplex ligation-dependent probe amplification (MLPA) is a novel method that uses multiple pairs of oligonucleotide probes to hybridize targeted genomic DNA regions; products from ligation reaction and polymerase chain reaction amplification are then analyzed by capillary electrophoresis. MLPA has been broadly used to detect copy number variation from single nucleotide substitutions to several megabase nucleotide deletions/duplications to chromosomal aneuploidy, methylation pattern analysis for genetic imprinting disorders and malignant tumors, and gene expression profiles in various genetic conditions. Objective: The technical aspects of the MLPA assay are reviewed, its applications in molecular diagnosis are discussed, and information is presented about quality assurance, quality control and future possibilities. Methods: More than 200 MLPA-related publications have been reviewed. Conclusion: MLPA offers significant advantages and is an attractive alternative to many current molecular and ...