Nucleophosmin (NPM1) Mutation Analysis, Varies
Use
This test serves as a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia (AML) with a normal karyotype and no FLT3 variant. It is used as a leukemia-specific marker of minimal residual disease. The presence of an NPM1 variant is associated with a more favorable prognosis when FLT3 mutations are absent. NPM1 alterations are common in de novo AML, occurring in 25%-30% of cases, and are typically characterized by small insertion events in exon 12.
Special Instructions
Not provided.
Limitations
A small number of NPM1 alterations at diagnosis may not be detected by the quantitative polymerase chain reaction component due to its targeted design. In such cases, the qualitative test part can be used for limited minimal residual disease assessment, although its sensitivity is lower, detecting alterations at approximately 5% at the DNA level.
New York Approved
Methodology
PCR-based (RT-qPCR)
Biomarkers
LOINC Codes
- 54448-6 - NPM1 gene Mut Anl Bld/T
- 31208-2 - Specimen source
- 59466-3 - Hematologist review
- 19139-5 - Pathologist name
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL
Minimum Volume
8 mL
Container
Lavender top (EDTA) or yellow top (ACD-B)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Label specimen as blood.
Causes for Rejection
Gross hemolysis, Bone marrow biopsies, Paraffin-embedded bone marrow clots, Slides, Paraffin shavings, Moderately to severely clotted specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 5 days |