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NPM1 Mutation Analysis
NPM1 exon 12 mutations represent one of the most common genetic abnormalities in patients with acute myeloid leukemia (AML). NPM1 mutations are primarily found in exon 12 of the gene consisting of 4-bp insertions causing a frameshift in the C terminus of the protein. Several insertion mutations have been identified, but type A, B and D make up approximately 90% of cases. The presence of mutated NPM1 confers a favorable prognosis in cytogenetically normal AML patients who lack FLT3 internal tandem duplication mutations. This test is not intended for monitoring residual disease following treatment.

Methodology and reporting:
Locked Nucleic Acid-mediated PCR amplification is performed on DNA extracted from peripheral blood or bone marrow followed by analysis using capillary electrophoresis. This test is designed to detect NPM1 type A, B, and D mutants, but does not distinguish between the three different types. The analytic sensitivity of this assay is approximately 0.05% (mutated/wild-type NPM1 DNA).

An interpretive report will be provided.

Effective date: April 14, 2021

Specimen requirement and testing information:

Specimen: One (1) 4 mL whole blood or bone marrow in EDTA (lavender) tube

Test methodology: PCR and capillary electrophoresis

Test code: NPM1

CPT code: 81310

Refrigerated: Peripheral blood - up to 7 days from collection date
Bone marrow – up to 3 days from collection date

Turnaround time (TAT):
Stat: 48-72 hours
Routine: 7 days

Rejection criteria: Gross hemolysis or large blood clots.

References ›

A summary of all tests offered by our Laboratory Services can be found here:


Jeff Chan, MD, PhD
Director, Diagnostic Molecular Pathology Laboratory

Edwin S. Monuki, MD, PhD
Chair, Department of Pathology & Laboratory Medicine

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