MLPA Test – Gene Deletion/Duplication

- MLPA uses pairs of oligonucleotide probes – small molecules of DNA that are designed to hybridise with a specific genomic sequence. Multiple pairs of probes can be multiplexed in the same reaction, for example to screen for all exons of a gene.- The probes bind only where their exact target sequence is present. If the probes in a pair bind immediately next to each other, their ends ligate (join together).- There is one primer binding site on the end of each of the probes in the pair. PCR amplification therefore only occurs if probes in a pair have ligated.- Amplification products are separated by length using capillary electrophoresis.