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Beaumont Laboratory

Nucleophosmin 1 Gene Mutation (NPM1)

NPM1 Gene Mutation, NPM1 Mutation, AML, acute myelogenous leukemia, EPIC: LAB6387, SOFT: GNPMG

Specimen Collection Criteria

Collect: Blood OR Bone Marrow.

  • Blood: 10 mL whole blood in Lavender-top EDTA tubes or Yellow-top ACD tubes. (Min: 5.0 mL)
  • Bone Marrow: 1.0 mL bone marrow aspirate in a Lavender-top EDTA tube. (Min: 0.5 mL) 

Physician Office/Drawsite Specimen Preparation

Do not freeze specimens. Maintain specimens 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).

Rejection Criteria

  • Frozen specimens. 
  • Unlabeled tubes. 
  • Specimens collected in heparin (Green-top), clot tubes (Red-top), or SST tubes.  

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

Extracted DNA may be available for additional testing if clinically indicated. Contact the Molecular Pathology Laboratory for verification.

Laboratory

Royal Oak Clinical Molecular Pathology Laboratory.

Performed

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

Reference Range

Negative (no mutations).

Test Methodology

PCR (Polymerase Chain Reaction) of Genomic DNA.

Interpretation

This test detects the nucleophosmin 1 (NPM1) gene mutation (NPM1 - MutA) that is a tetranucleotide insertion.

Clinical Utility

The NPM1 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. 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.

CPT Code

81310.

Test Codes

EPIC: LAB6387, SOFT: GNPMG

Last Updated

08/02/2017

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This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.