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| NPM1 Quantitative Mutation Test |
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| Quantifies NPM1 mutations to monitor leukemia relapse, aiding treatment planning | ||
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Synonym | NPM1 MRD Test |
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Test Code | CHEM250056 |
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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 |
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| NPM1 Quantitative Mutation Test |
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| Synonym | NPM1 MRD Test | |
| Test Code | CHEM250056 | |
 | 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 Quantitative Mutation Test
Introduction: The NPM1 Quantitative Mutation Test quantifies NPM1 mutations to monitor leukemia relapse, aiding treatment planning. Following 2023 ASH guidelines, it uses PCR for high specificity, supporting cancer screening. This test is critical for guiding relapse monitoring, treatment adjustments, and improving outcomes in hematology for patients with acute myeloid leukemia (AML). Other Names: NPM1 MRD Assay, AML Quantitative Test. FDA Status: Laboratory-developed test (LDT), meeting hematology standards for diagnostic accuracy. Historical Milestone: NPM1 quantitative testing began in the 2000s with AML relapse research. PCR methods improved in the 2010s, enhancing detection sensitivity. Purpose: Quantifies NPM1 mutations to monitor AML relapse, guides treatment, and evaluates patients for disease recurrence. Test Parameters: 1. NPM1 Mutation Quantitative Pretest Condition: No fasting required. Collect whole blood, bone marrow, or saliva. Report history of AML, fatigue, or bleeding. 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 AML history, fatigue, bleeding, or chemotherapy treatment. Include current medications, especially targeted therapies. Consent: Written consent required, detailing the tests purpose, AML relapse implications, and risks of sample collection. Procedural Considerations: Uses quantitative PCR to measure NPM1 mutation levels in specimens. Results are available in 3-5 days, supporting clinical decisions. Performed in laboratories, often for AML relapse monitoring. Factors Affecting Result Accuracy: Low DNA yield or improper sample storage can affect results. Contamination may reduce specificity. Clinical Significance: Elevated NPM1 mutation levels suggest AML relapse, guiding intensified therapy. Undetectable levels support remission. Specialist Consultation: Consult a hematologist or oncologist for result interpretation and treatment planning. Additional Supporting Tests: FLT3 mutation testing, bone marrow biopsy, or flow cytometry to monitor AML relapse. Test Limitations: Sensitivity depends on sample quality; clinical correlation is needed. Not all AML relapses show NPM1 mutations. References: ASH AML Guidelines, 2023; Blood, Ivey A, 2022. |