MD NPM1 MRD Mutation Analysis (NGS)

The detection of low-level measurable residual disease (MRD) is helpful for managing leukemia patients and developing new therapies. One-third of primary acute myeloid leukemia (AML) cases in adults involve NPM1 mutation, which usually remains stable over time and is often only detected at relapse. The estimation of the variant read frequency (VRF) of NPM1-mutant MRD with a sensitive and accurate assay represents a significant advancement in AML MRD studies.

NPM1 MRD assay is a genomic DNA-based NGS deep sequencing assay that targets exon 12 of the NPM1 gene. This assay can identify NPM1 mutations variants 'A,' 'B,' 'D,' and 'others' at an allelic sensitivity level of 0.005%. This assay provides information on residual disease for inclusion in clinical decision making for the patient’s post-treatment care.

Next-generation sequencing of PCR products is employed to identify DNA sequences corresponding to previously detected mutations identified at diagnosis.

Clinical specimens were reviewed for following NPM1 transcripts.

10 days

10 ml peripheral blood (PB) in purple-top (lavender top) tube (EDTA Vacutainer), sent on wet ice

or

2–5 ml of bone marrow aspirate (BM), sent on wet ice

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