PCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations specific to AML. Positive results are reported quantitatively as percent abnormal DNA. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.
Testing for NPM1 and other gene mutations in AML patients with intermediate-risk cytogenetic abnormalities can improve risk stratification. NPM1 mutations can predict favorable prognosis in AML. In addition, this test can be used for screening and determining if a bone marrow biopsy is an absolute necessity, as well as monitoring disease status and response to therapy. Results are quantitative and help in monitoring. It can also be used for performing molecular studies when a bone marrow sample is inadequate (dry tap, insufficient quantity, or not viable), or not available.
- Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL)or 10 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.