JAK2V617F Mutation Analysis, Qualitative
Also known as: JAK2 V617F (Exon 14 Mutation), Janus Kinase 2V617F Mutation Detection
Use
The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one- half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). The V617F mutation has also been detected, although infrequently, in other myeloid disorders, such as chronic myelomonocytic leukemia and chronic neutrophilic leukemia.
Special Instructions
Not provided.
Limitations
This test only detects the nucleotide change encoding the V617F mutation within JAK2; other mutations within the JAK2 gene are not detected. Sensitivity is approximately 5% for detecting cells with the JAK2 mutation amidst nonmutant cells. A negative result does not rule out chronic myeloproliferative disorders or other neoplastic processes. The test was developed by Labcorp and is not FDA cleared or approved.
Methodology
PCR-based (Allele-specific polymerase chain reaction (PCR); capillary electrophoresis)
Biomarkers
No genes
Gene
LOINC Codes
- 43399-5 - JAK2 p.V617F Bld/T Ql
- 43399-5 - JAK2 p.V617F Bld/T Ql
- 77202-0 - Laboratory comment Report
- 72486-4 - Lab director name Provider
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Storage Instructions
Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form.
Causes for Rejection
Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 48 hours |
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