JAK2 (V617F) Mutation by ddPCR, Qualitative
Also known as: JAK2 QUAL
Use
This test aids in the workup of suspected myeloproliferative neoplasms by detecting the JAK2 V617F mutation, which is present in patients with these neoplasms. Detection of this mutation helps confirm the diagnosis and guide treatment strategies for conditions such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
Special Instructions
Informed Consent for Genetic Testing is required for New York patients. Specimens unacceptable for this test include plasma, serum, FFPE tissue blocks/slides, fresh or frozen tissue, and specimens collected in anticoagulants other than EDTA. Clotted or grossly hemolyzed specimens will also be rejected.
Limitations
This assay detects only the JAK2 V617F c.1849G>T mutation. Variants in other genes or other JAK2 variants are not detected or reported. Samples with mutation levels below 0.5% may not be detected. Results must be interpreted in the context of morphological and other clinical findings and are not solely diagnostic for malignancy. The test has not been FDA cleared or approved but is performed in a CLIA-certified lab.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
LOINC Codes
- 31208-2
- 43399-5
Result Turnaround Time
2-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) tube
Storage Instructions
Transport refrigerated
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, fresh/frozen tissue, non-EDTA anticoagulants, clotted or grossly hemolyzed specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |