Molecular deletion/duplication testing
A molecular assay such as MLPA may be necessary to safely scan for large exonic, multi-exonic or whole-gene deletions in certain genes. Similarly, it may help confirm a large deletion or duplication detected by algorithmic CNV analysis at Whole Exome Sequencing and Whole Genome Sequencing.
A wide selection of available kits
MLPA analysis can be performed by utilizing commercial kits, of which availability is usually scattered among different laboratories. Thanks to our network of partner labs, we can always find the right kit for the gene of your interest.
MS-MLPA (UPD testing)
Methylation-Specific MLPA (MS-MLPA) for Uniparental Disomy (UPD) can also be requested for conditions characterized by the alteration of the methylation pattern, like for instance Silver-Russell, Prader-Willi, Angelman, Beckwith-Wiedemann syndromes and others.
