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HelpTest ID NPM1 Nucleophosmin (NPM1) Mutation Analysis
Useful For
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 mutation
Special Instructions
Method Name
DNA Polymerase Chain Reaction (PCR) with Fragment Analysis by Capillary Gel Electrophoresis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
Nucleophosmin Mutation AnalysisSpecimen Type
VariesThe following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date of collection
4. Specimen source
Forms:
1. Hematopathology Patient Information Sheet (Supply T676) in Special Instructions
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen
(http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)
Specimen must arrive within 168 hours of collection.
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
3. Label specimen as blood.
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
3. Label specimen as bone marrow.
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA
Specimen Volume: Entire specimen
Collection Instructions: Label specimen as extracted DNA from blood or bone marrow.
Specimen Type: Paraffin-embedded bone marrow aspirate clot
Container/Tube: Paraffin block
Specimen Minimum Volume
Blood: 0.5 mL/Bone Marrow: 0.5 mL/Extracted DNA from Blood or Bone Marrow: 10 microliter at 20 ng/microliter
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | 7 days |
| Refrigerated | 7 days |
Clinical Information
Acute myelogenous leukemia (AML) is a heterogenous group of neoplasms. While cytogenetic aberrations detected at the time of diagnosis are the most commonly used prognostic feature, approximately 20% of AML cases show a normal karyotype, which is considered an intermediate-risk feature. Within this group, FLT3 mutations are considered indicators of poor prognosis. However, in the absence of a FLT3 mutation, the presence of a nucleophosmin (NPM1) mutation is associated with a more favorable prognosis. Thus, in patients with newly diagnosed AML, those with normal karyotype, no FLT3 mutation, and a NPM1 mutation are considered to have a better prognosis than patients in the same group with neoplasms lacking a NPM1 mutation.
Reference Values
An interpretive report will be provided.
Cautions
This is a qualitative test and is designed to be used at the time of diagnosis when the mutation burden is high. The analytical sensitivity (approximately 5% mutated alleles) is not adequate for monitoring patients during therapy as a test of minimal residual disease.
Day(s) Performed
Monday through Friday; 3 p.m.
Report Available
4 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81310-NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis; exon 12 variants