JAK2, Exon 12 Mutation Analysis

For Specimen Integrity during Extreme Weather see the “Lockbox Usage in Extreme Weather” document at the top of this page.

Test Code

Alias/See Also

CPT Codes

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

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.

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

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: May 31, 2024

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.