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| NPM1 Mutation Test |
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| Detects NPM1 mutations to diagnose acute myeloid leukemia, causing fatigue or bleeding | ||
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Synonym | NPM1 Mutation Test |
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Test Code | CHEM250055 |
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Test Type | Hematology |
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Pre-Test Condition | No special |
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Report Availability | 3–5 D(s) |
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# Test(s) | 1 |
| Test details | Sample Report |
|---|---|
| NPM1 Mutation Test |
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| Synonym | NPM1 Mutation Test | |
| Test Code | CHEM250055 | |
 | Test Category | ||
| Pre-Test Condition | No special | |
 | Medical History | Share & see Updates | |
| Report Availability | 3–5 D(s) | |
 | Specimen/Sample | Refer Updates | |
 | Stability @21-26 deg. C | 24 H(s) | |
 | Stability @ 2-8 deg. C | 48 H(s) | |
 | Stability @ Frozen | Not frozen | |
| # Test(s) | 1 | |
 | Processing Method | PCR | |
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Overview: NPM1 Mutation Test
Introduction: The NPM1 Mutation Test detects NPM1 mutations to diagnose acute myeloid leukemia, causing fatigue or bleeding. Aligned with 2023 ASH guidelines, it uses PCR for high specificity, supporting cancer screening. This test is critical for guiding diagnosis, treatment planning, and improving outcomes in hematology for patients with suspected acute myeloid leukemia (AML). Other Names: NPM1 Assay, AML Mutation Test. FDA Status: Laboratory-developed test (LDT), meeting hematology standards for diagnostic accuracy. Historical Milestone: NPM1 mutation testing began in the 2000s with AML research. PCR methods improved in the 2010s, enhancing diagnostic precision. Purpose: Detects NPM1 mutations to diagnose acute myeloid leukemia, guides treatment, and evaluates patients with fatigue or bleeding. Test Parameters: 1. NPM1 Gene Mutation Pretest Condition: No fasting required. Collect whole blood, bone marrow, or saliva. Report history of fatigue, bleeding, or AML symptoms. Specimen: Whole Blood (EDTA, 2-5 mL), Bone Marrow (EDTA, 2-5 mL), Saliva (sterile container, 1-2 mL). Transport in a biohazard container. Sample Stability at Room Temperature: 24 hours Sample Stability at Refrigeration: 48 hours Sample Stability at Frozen: Not frozen Medical History: Document fatigue, bleeding, bruising, or family history of leukemia. Include current medications, especially chemotherapy. Consent: Written consent required, detailing the tests purpose, AML implications, and risks of sample collection. Procedural Considerations: Uses PCR to detect NPM1 mutations in specimens. Results are available in 3-5 days, supporting clinical decisions. Performed in laboratories, often for AML diagnosis. Factors Affecting Result Accuracy: Low DNA yield or improper sample storage can affect results. Contamination may reduce specificity. Clinical Significance: Positive NPM1 mutations confirm AML, guiding chemotherapy or targeted therapy. Negative results may require FLT3 or other mutation testing. Specialist Consultation: Consult a hematologist or oncologist for result interpretation and treatment planning. Additional Supporting Tests: FLT3 mutation testing, bone marrow biopsy, or CBC to confirm AML diagnosis. Test Limitations: Not all AML cases show NPM1 mutations; clinical correlation is needed. Sample quality affects sensitivity. References: ASH AML Guidelines, 2023; Blood, Falini B, 2022. |