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NPM1 Mutation Analysis

Nucleophosmin 1 Gene Mutation, NPM1 Gene Mutation, NPM1 Mutation, AML, acute myeloid leukemia, GNPMG

Test Codes

EPIC: LAB3689

Department

Molecular Pathology

Specimen Collection Criteria

Collect: Blood OR Bone Marrow.

• Blood: 10.0 mL whole blood in Lavender-top EDTA tubes or Yellow-top ACD tubes. (Minimum: 5.0 mL)
• Bone Marrow: 1.0 mL bone marrow aspirate in a Lavender-top EDTA tube. (Minimum: 0.5 mL) 

Physician Office/Draw Specimen Preparation

Do not freeze specimens. Maintain specimens refrigerated (preferred) (2-8°C or 36-46°F) or at room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: Whole blood or bone marrow at room temperature (20-26°C or 68-78.8°F) or refrigerated (preferred) (2-8°C or 36-46°F).

Rejection Criteria

• Frozen specimens. 
• Centrifuged specimens.
• Mislabeled or unlabeled tubes. 
• Specimens collected in heparin tubes(Green-top), clot tubes (Red-top), or SST tubes.
• Specimens not collected and processed as indicated.

Clients will be notified of any cancellations of testing.

In-Lab Processing

Do not freeze specimens. Maintain specimen refrigerated (2-8°C or 36-46°F) prior to testing. 

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Refrigerated (2-8°C or 36-46°F): 7 days

Specimen storage, DNA (post testing):

Frozen (-25° to -15°C): Indefinitely

Laboratory

Royal Oak Molecular Pathology Laboratory

Performed

Once per week.
Results available in 7-10 days.

Reference Range

Negative (tetranucleotide insertion not identified).

Test Methodology

Polymerase chain reaction (PCR) of genomic DNA with fragment analysis of the products by agarose gel electrophoresis.

Interpretation

This test detects a tetranucleotide insertion in the nucleophosmin 1 (NPM1) gene.

Clinical Utility

The NPM1 tetranucleotide insertion mutation is the most frequent single molecular genetic abnormality (46% - 62%) in patients with acute myeloid leukemia with a normal karyotype and is associated with favorable prognosis in the absence of the FLT3 internal tandem duplication (FLT3-ITD). In contrast, when the NPM1 mutation is associated with FLT3-ITD or adverse risk cytogenetic abnormalities it is respectively classified as intermediate or poor risk per current NCCN guidelines.

NPM1 mutation positivity is also a marker of the leukemic clone, useful in-patient monitoring for residual or recurrent acute myeloid leukemia. As such, the test is recommended at the time of initial diagnosis of AML and to monitor the leukemic clone during therapy. Please note that this assay does not have sufficient sensitivity to rule out molecular minimal residual disease following therapy.

CPT Codes

81310

Contacts

Last Updated

10/7/2025