JAK2 (V617F) Mutation by ddPCR, Qualitative With Reflex to JAK2 Exon 12-Mutation Analysis by PCR
Also known as: PV REFLEX
Use
This test is used when a diagnosis of polycythemia vera (PV) is suspected. The JAK2 V617F mutation is associated with myeloproliferative neoplasms, and the detection of this mutation can aid in the diagnosis of these conditions. In cases where the JAK2 qualitative result is 'Not Detected', a reflex to JAK2 Exon 12-Mutation Analysis may be performed to further investigate potential mutations.
Special Instructions
This test is approved for use in New York state. If the JAK2 qualitative is reported as 'Not Detected,' JAK2 Exon 12-Mutation Analysis by PCR will be added, and additional charges will apply. The test must be performed in a CLIA-certified laboratory.
Limitations
The test specifically detects the point mutation c.1849G>T (V617F) of the JAK2 gene. Variants in other genes or other JAK2 variants are not detected or reported. Samples with JAK2 V617F mutations below the limit of detection (0.5 percent mutated alleles) are not reported. Results should not be used alone for a diagnosis and must be interpreted in context with other data.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
LOINC Codes
- 31208-2
- 43399-5
Result Turnaround Time
3-12 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
Patient Preparation
Do not freeze
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, or fresh or frozen tissue. Specimens collected in anticoagulants other than EDTA. Clotted or grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |