Mutation screening and NGS in hemat. malignancy

Mutation screening and NGS in hematological malignancies

In this mutation screening and next generation sequencing (NGS) of hematological malignancies, a limited number of diagnostic samples are shared with the participants for screening mutations (3-6 samples) and determining pathogenic mutations by means of NGS (3-4 samples).

The diagnostic samples for screening mutations are for testing the rapid diagnostics for the presence of e.g. FLT3 internal tandem duplications (ITD), FLT3 tyrosine kinase domain (TKD) mutations and mutations in IDH1/IDH2 for targeted therapy in patients diagnosed with acute myeloid leukemia (AML). Other genetic abnormalities and/or hematological malignancies can be added at a later stage.

The samples for determining pathogenic mutations by means of NGS are for testing the detection of all pathogenic mutations in patients with various hematological malignancies.