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.
Note: Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.
Storage & Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
CPT Code(s)*
81310
Turnaround Time
7 days
Level of Service
Global
New York Approved
No