Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics

Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis tool which is routinely used to detect large mutations in genetic diseases. With continuous modifications, MLPA has been extended for the detection of DNA methylation variation, single nucleotide polymorphisms, chromosome abnormalities and other forms of genomic variation. The combination with other techniques has even enlarged the application of MLPA in molecular diagnostics of various human diseases. In this review, the principle of MLPA-based techniques as well as their main and latest applications in clinical detection are described. It is believed that with improved automation, increased multiplexing, lower cost and the combination with other technologies, MLPA will play an increasingly important role in molecular diagnosis of human disease.

Automated summary

MLPA is a useful tool for detecting large mutations in genetic diseases and has the capability to detect DNA methylation variation, single nucleotide polymorphisms, chromosome abnormalities, and other forms of genomic variation. It can be combined with other techniques to expand its applications in molecular diagnostics of human diseases.