NPM1 MRD Analysis is performed by PCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations. Testing is performed on plasma with a PCR modification to improve sensitivity. The lower limit of detection of mutated NPM1 in this assay is 5 x 10^-3 (0.5%). Positive results are reported quantitatively if the percentage of mutated DNA is ≥1%, and they are reported qualitatively if ˂1%.
High-sensitivity testing to detect residual NPM1 mutation in AML may be useful for further refining prognosis and for early detection of relapse.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Note: Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
7 days
- Schnittinger S, Kern W, Tschulik C, et al. Minimal residual disease levels assessed by NPM1 mutation–specific RQ-PCR provide important prognostic information in AML. Blood. 2009; 114:2220-2231.
- Krönke J, Schlenk RF, Jensen KO, et al. Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group. J Clin Oncol. 2011; 29(19):2709-16.