JAK2-V617F MUTATION ANALYSIS, QUALITATIVE

Message

*Collect specimen Monday through Friday only before 1500 EST. Do not collect the day before a holiday.

Test Code

LAB00111

Alias/See Also

LAB00111
LabCorp TC: 489200
Janus Kinase 2 V617F Mutation Detection
Exon 14 Mutation

CPT Codes
81270

Preferred Specimen

5 mL Lavender (EDTA) or Dark green-top (sodium heparin) tube - Whole Blood

Minimum Volume

3 mL

Other Acceptable Specimens

1 to 2 mL bone marrow or cell pellet

Transport Temperature

Room Temperature

Specimen Stability

Room Temperature - Should arrive in the lab within 48 hours of collection. Store refrigerated if there will be a delay in transit.

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

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

Methodology
Allele-specific polymerase chain reaction (PCR); capillary electrophoresis

Report Available

5-7 days

Limitations

This analysis will only detect the nucleotide change encoding the V617F mutation within JAK2. Other mutations within the JAK2 gene will not be detected by this analysis. This assay has a sensitivity of approximately 5% for the detection of cells containing the JAK2 mutation within a background of nonmutant cells. A negative result does not exclude the presence of a chronic myeloproliferative disorder or other neoplastic process. This test was developed and its performance charcteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Clinical Significance

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.

Performing Laboratory
LabCorp

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.