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Alternative Name
NPM1 Liquid Biopsy Testing, Nucleophosmin (Nucleolar Phosphoprotein B23)
Test Description

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.

Clinical Significance

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.

Specimen Requirements
  • Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL)or 10 mL in EDTA tube.
Storage and Transportation

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.

CPT Code(s)*
Turnaround Time

7 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.