Test Catalog



Alternative Names: JAK2

Includes: Interpretation (43399-5)

Sample Type: Whole Blood

Preferred Container: EDTA (Lavender Top) Tube

Sample Volume: 5.0 mL

Handling Instructions: Refrigerate specimen after collection

Transport Temperature: Refrigerated

Specimen Stability: Ambient: 3 Days, Refrigerated: 1 Month

Testing Frequency: Monday, Friday

Expected Turn Around Time: 3-5 Days

CPT Codes: 81270

Note: BCR-ABL1 negative myeloproliferative neoplasms include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The JAK2 exon 14 mutation V617F is found in 95% of cases of PV, 55% of ET, 60% of PMF, and 40% of blast phase myeloproliferative neoplasms. Testing for the JAK2 V617F mutation may be useful in evaluating unexplained erythrocytosis, thrombocytosis, or bone marrow fibrosis. Evaluation of other signs and symptoms of myeloproliferative neoplasms such as unusual thrombotic events, aquagenic pruritis, or splenomegaly may also benefit from JAK2 V617F testing.

The JAK2 V617F qualitative test utilizes real-time polymerase chain reaction (PCR) to detect the NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) nucleotide change. The limit of detection is 1.0% mutant alleles. Other mutations in the JAK2 gene or other mutations associated with myeloproliferative neoplasms are not detected.