JAK2 V617F MUTATION ANALYSIS QUALITATIVE

General Information

HLAB/HOL Code: JK2B
UPHSM LIS Test #: 026544
Schedule:
Testing Time: 5-7 Days
Testing Lab: Labcorp

Specimen Info
Only 1 specimen type required, unless otherwise specified

Volume: 3-5mL
Temperature: Ambient
Tube Type: Whole Blood
Collection Info:
Specimen: Whole blood
Minimum Volume: 3 mL whole blood
Container: Lavender-top (EDTA) tube or green-top (sodium heparin) 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.


Methods

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

Clinical Utilities

The JAK2 V617F (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 JAK2 V617F 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.

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 ~5% for the detection of cells containing the JAK2 mutation within a background of nonmutant cells. A negative result does not exclude the presence

CPT Codes

81270

* The CPT codes provided 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 payer being billed.

Reference Range

An interpretive report will be provided.