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MPL Mutation Analysis
- Molecular
This test uses bi-directional sequencing on MPL exon 10 to detect all possible mutations at the W515 and S505 codons, and other mutations throughout the exon.
Testing is performed on plasma for increased sensitivity whenever possible.
Test Customization: This test may be ordered separately or as part of the MPN Reflex Panel.
Clinical Significance
MPL W515 mutations are present in JAK2-negative patients with primary myelofibrosis (PMF) or essential thrombocythemia (ET) at a frequency of approximately 1-5%, respectively. The S505 mutation is usually detected in patients with familial essential thrombocythemia. Mutation analysis helps differentiate reactive conditions from MPNs.
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Test is DNA-based. Please select Extract & Hold - DNA If specimen hold service is desired.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible. Please select extract & hold - DNA if specimen hold service is desired. NYS clients please provide date and time of Collection.
CPT Code(s)*
81339 (as of 01/01/2021); Prior to CPT Code was 81402
*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