NPM1 Mutation Analysis

CPT: 81310
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Test Details


NPM1 (nucleophosmin) mutation is one of the most common recurring genetic lesions in acute myeloid leukemia (AML). This AML type frequently has myelomonocytic or monocytic features and typically presents de novo in older adults with a normal karyotype. Prevalence increases with age, occurring in 2% to 8% of childhood AML and 27% to 35% of adult AML. The most common mutation, insertion at nucleotide position 959 (exon 12), accounts for 90% to 95% of NPM1 mutations. NPM1 mutations in absence of FLT3-ITD identify a prognostically favorable subgroup.


This assay has a sensitivity to detect approximately the 5% population of cells containing the 4 base pair insertion at nucleotide position 959 (exon 12) in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of this assay or other NPM1 mutations.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary.


Polymerase chain reaction (PCR); capillary electrophoresis

Specimen Requirements


Whole blood or bone marrow


3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow (Note: This volume does not allow for repeat testing.)


Lavender-top (EDTA) tube or green-top (sodium heparin) tube


Submit at room temperature. Indicate date and time of collection on test request form.

Storage Instructions

Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.

Causes for Rejection

Quantity not sufficient for analysis; hemolysis; frozen specimen; clotted blood specimen

Clinical Information

Special Instructions

Please direct any questions regarding this test to customer service at 800-345-4363.


Falini B, Nicoletti I, Martelli MF, Mecucci C. Acute myeloid leukemia carrying cytoplasmic/mutated nucleophosmin (NPMc+ AML): biologic and clinical features. Blood. 2007 Feb 1, 109(3):874-885.17008539
Mrózek K, Bloomfield CD. Chromosome aberrations, gene mutations and expression changes, and prognosis in adult acute myeloid leukemia. Hematology Am Soc Hematol Educ Program. 2006; 169-177.17124057
Schlenk RF, Döhner K, Krauter J, et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med., 2008 May 1, 358(18):1909-1918.18450602
Schneider F, Hoster E, Unterhalt M, et al. NPM1 but not FLT3-ITD mutations predict early blast cell clearance and CR rate in patients with normal karyotype AML (NK-AML) or high-risk myelodysplastic syndrome (MDS). Blood. 2009 May 21; 113(21):5250-5253.19279329
Verhaak RG, Goudswaard CS, van Putten W, et al. Mutations in nucleophosmin (NPM1) in acute myeloid leukemia (AML): association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance. Blood. 2005 Dec 1; 106(12):3747-3754.16109776


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489140 NPM1 Mutation Analysis 489141 NPM1 Mutation Analysis Result: 54448-6
489140 NPM1 Mutation Analysis 489142 Background: 77202-0
489140 NPM1 Mutation Analysis 489139 Methodology: 49549-9
489140 NPM1 Mutation Analysis 489144 References: 75608-0
489140 NPM1 Mutation Analysis 489145 Director Review: 48672-0

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