Is it possible to detect point mutations with MLPA?
) On the other hand, it means that a (non-pathogenic) polymorphism can sometimes result in a decreased MLPA probe signal, thus mimicking a deletion. When probes are designed by MRC-Holland, any known SNPs (Single Nucleotide Polymorphisms) found in a variety of public genetic databases (including NCBI Genbank) are avoided. However, as new polymorphisms are continuously being discovered -sometimes very regional ones- it is impossible to exclude this in all cases. This is why it is recommend to confirm all MLPA findings with another method, especially in the case of single probe deletions.