MAGI’s molecular biology laboratories have the latest available equipment in the human genetics sector. Advanced equipment enables analysis by different methods, in particular diagnostic tests by next generation sequencing (NGS), direct sequencing (Sanger) and multiplex ligation-dependent probe amplification (MLPA)

This method makes it possible to analyse many genes simultaneously and is used to diagnose diseases with high genetic heterogeneity, i.e. diseases in which the same clinical phenotype is associated with mutations in many genes. It also enables identification of new disease-causing genes, greatly increasing the possibility of reaching a molecular diagnosis in the case of genetic diseases that are still relatively uncharacterised.

The method enables amplification of the coding part of genes of interest by PCR, coupled with direct Sanger sequencing. It is used when there is the possibility of diagnosing an inherited disease associated with point mutations of one or very few disease-causing mutations. Direct gene sequencing is also used to confirm genetic mutations identified by NGS.

This method is used to detect alterations in the number of copies of certain genomic regions, and can therefore identify deletions and duplications of coding regions (exons).