Alternative Name
Nucleophosmin (Nucleolar Phosphoprotein B23)
Methodology
Molecular
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 may be performed on plasma 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 with normal karyotype.

Specimen Requirements
  • 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.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

CPT Code(s)*
81310x1
Turnaround Time

7 days

Level of Service
Global

*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.