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NPM1 MRD Analysis
- Molecular
This test uses PCR and fragment analysis on NPM1 exon 12 to detect small insertion mutations for minimal residual disease (MRD) assessment.
Testing is performed on plasma with a PCR modification to improve sensitivity. The lower limit of detection of mutated NPM1 in this assay is 5 x 10-3 (0.5%)
Positive results are reported quantitatively if the percentage of mutated DNA is >1%, and they are reported qualitatively if <1%.
Clinical Significance
Mutation at exon 12 of nucleophosmin 1 (NPM1) gene is a predictor of favorable prognosis in AML with intermediate-risk and associated with good response to induction chemotherapy; if there is no mutation in FLT3. Mutations in the NPM1 gene also are frequently associated with normal karyotype in adult and pediatric acute myeloid leukemia (AML). The ratio of the mutant peak to total can be used to monitor disease and response to therapy.
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
H&E slide (required) plus paraffin block.
Cut Slides: H&E slide (required) plus 5-10 unstained slides cut at 5+ microns.
Note on FFPE: Paraffin block is preferred. Do not use zinc fixatives. If submitting slides, please use positively-charged slides and 10% NBF fixative. Block and slide identifiers should be clearly written and match exactly with the specimen ID and specimen labeling as noted on the requisition.
Note: Test is DNA-based. Please select Extract & Hold - DNA If specimen hold service is desired.
Note on Fresh Tissue: Not suitable for freeze & hold option.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze. Please select extract & hold - DNA if specimen hold service is desired.
CPT Code(s)*
81310
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Last Updated: August 27, 2025