This test uses PCR and fragment analysis to detect small insertion mutations specific to AML in exon 12 of NPM1. Positive results are reported quantitatively as percent abnormal DNA. Testing may be performed on plasma to increase sensitivity.
NPM1 Mutation Analysis
- Molecular
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.
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
Turnaround time
7 Days
Level of Service
- Global
Integrations
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New York Approved: No
Clinical Significance
Testing for NPM1 and other gene mutations in AML patients with intermediate-risk cytogenetic abnormalities can improve risk stratification. NPM1 mutations can predict favorable prognosis in AML with normal karyotype.
*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.
Biomarkers
DNA Sequencing
| SNVs + Indels | |||||
|---|---|---|---|---|---|
| NPM1 | |||||
Last Updated: December 06, 2025