JAK2 (V617F) Mutation by ddPCR, Quantitative
Also known as: JAK2V617FQ
Use
This test aids in the workup of suspected myeloproliferative neoplasms by detecting the JAK2 V617F mutation, which is commonly present in these conditions. Detection of this mutation can provide valuable insight into the diagnosis and management of conditions classified under myeloproliferative neoplasms.
Special Instructions
The test is performed using Droplet Digital PCR (ddPCR) and requires whole blood or bone marrow specimens collected in EDTA or sodium heparin tubes. Care must be taken to not freeze the samples.
Limitations
The assay is designed only to detect the specific JAK2 V617F mutation (c.1849G>T). It does not detect other mutations in the JAK2 gene or mutations in other genes. Results must be interpreted in conjunction with other clinical and laboratory data, and should not be used independently to diagnose malignancy. The assay has a detection limit of 0.2% for mutated alleles and is not intended for detecting minimal residual disease.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
LOINC Codes
- 31208-2
- 53761-3
- 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) or Green (sodium heparin) tube
Storage Instructions
Refrigerated
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, frozen tissue, clotted or hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |