NPM1 Mutation Detection by RT-PCR, Quantitative
Also known as: NPM1 QNT
Use
This test is designed to detect and quantify NPM1 mutant transcripts, a common recurrent genetic abnormality in acute myeloid leukemia (AML). It is particularly useful in identifying the presence of types A, B, and D mutations in NPM1, which are prevalent in a subset of AML patients. NPM1 mutations, particularly type A, occur in approximately one-third of all AML patients and confer a favorable prognosis in cytogenetically normal patients who lack FLT3 mutations. The test is significant for monitoring minimal residual disease (MRD), providing important prognostic information that can inform clinical decisions.
Special Instructions
Specimens must be received within 48 hours of collection due to RNA lability. Samples should be refrigerated immediately upon collection, and separate specimens must be submitted if multiple tests are ordered.
Limitations
This assay may not detect rare NPM1 variants other than types A, B, or D. The limit of detection for type A mutants is approximately 1:100,000 cells (0.001%), but the sensitivity for types B and D has not been demonstrated. Negative results do not rule out NPM1 mutations below the detection threshold or other rare forms not covered by this test. Continuous monitoring is recommended only for patients with known NPM1-mutated AML.
New York Approved
Methodology
PCR-based (RT-PCR)
Biomarkers
LOINC Codes
- 31208-2
- 54448-6
Result Turnaround Time
5-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
lavender (EDTA) tube
Storage Instructions
Refrigerate immediately upon collection.
Causes for Rejection
Serum, plasma, extracted DNA, CSF, FFPE tissue, ambient or frozen samples, non-EDTA anticoagulants, severe hemolysis, clotted specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |