Characterisation of the molecular landscape of myelodysplastic syndromes (MDS) at dignosis and during the progression to acute myeloid leukaemia (AML) can contribute in understanding the dynamics of the disease and optimize treatment. Mutation analysis by NGS can help to better define risk-stratification of MDS patients, in particular those in the intermediate risk group.

The Sanquin MDS/MPN Diagnostic NGS Test is an in silico validated targeted Next Generation Sequencing (NGS) assay that suits diagnosis in patients suspected to have MDS/MPN. Wet-lab validation of this panel is in progress.
The MDS/MPN Panel encompasses 18 genes covering genes for full exon, partial region, or hot spots depending on the locus of interest. For the identification of numerous recurrent somatic disease alleles with biologic, prognostic, and therapeutic relevance