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JAK2, Exon 12 Mutation Analysis
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Test Code
JAK2EX
CPT Codes
81279
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 a sodium heparin (green-top) tube • Fixed cell pellet collected in a plastic leak-proof container • Extracted DNA from CLIA-certified laboratory collected in a sterile leak-proof container
Instructions
Do not reject specimens, send to laboratory for screening.
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.
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.
Transport Temperature
Room temperature
Specimen Stability
Whole blood, bone marrow aspirate, Fixed cell pellets
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: 7 days
Refrigerated: 14 d
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: 7 days
Refrigerated: 14 d
Methodology
Polymerase Chain Reaction-based DNA 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 the U.S. Food and Drug Administration. 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 DNA-based assay tests leukocytes from blood or bone marrow aspirate for mutations in exon 12 of JAK2, using an advanced DNA sequencing method. These mutations are associated with myeloproliferative neoplasms, particularly polycythemia vera.
Performing Laboratory
Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly, VA 20153
Last Updated: November 30, 2021
