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JAK2 V617F Mutation Analysis, Qualitative

CPT 81270
Synonyms
  • JAK2 V617F (Exon 14 Mutation)
  • Janus Kinase 2V617F Mutation Detection

Test Details

Cancer Type

Hematologic malignancies, Myeloproliferative neoplasm (MPN)

Technology Used

Molecular

Turnaround Time

5 - 7 days

View Requisition Forms

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

Please direct any questions regarding this test to customer service at 800-345-4363.

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 characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

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

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood, bone marrow or cell pellet

Volume

3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow

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

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