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MPL Mutation Analysis
Test CodeMPL Mut-QNI
Quest Code
92476
CPT Codes
81339 (NOT COVERED by CMS DEX Recommended 81479 ZB11T)
Preferred Specimen
4 mL whole blood or 3 mL bone marrow aspirate collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow aspirate
Other Acceptable Specimens
Whole blood or bone marrow aspirate collected in: Sodium heparin (green-top) tube • Fixed-cell pellet collected in: Plastic leak-proof container • Extracted DNA from CLIA-certified laboratory collected in: Sterile leak-proof container
Instructions
Cell pellets: Send fixed samples within 7 days of fixation date in a plastic, leak-proof tube/container. Indicate type of fixative used along with patient name, specimen source, date collected, and date harvested/fixed. Cell pellets submitted in Carnoy's or other alcohol-based fixatives are acceptable. Do not reject specimens, send to laboratory for screening.
Transport Temperature
Refrigerated
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature:7 days
Refrigerated: 14 days
Frozen: 1 year
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature:7 days
Refrigerated: 14 days
Frozen: 1 year
Methodology
Next-Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 5-7 days
Reference Range
See Laboratory Report
Clinical Significance
This advanced DNA-based, next-generation sequencing (NGS) assay analyses leukocytes from blood or bone marrow aspirate for mutations in exon 10 of the thrombopoietin receptor (MPL), including condons 505 and 515. Mutations at these sites in MPL are associated with myeloproliferative neoplasms (MPN), particularly essential thrombocythemia (ET) and primary myelofibrosis (PMF).
Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042