JAK2 V617F MUTATION DETECTION BONE MARROW

General Information

HLAB/HOL Code: JK2BM
UPHSM LIS Test #: 6545
Schedule:
Testing Time:
Testing Lab: Labcorp

Specimen Info
Only 1 specimen type required, unless otherwise specified

Volume: 1.0-2.0 mL
Temperature: Ambient
Tube Type: Bone Marrow
Collection Info:
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. Indicate date and time of collection on the test request form.

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 of a chronic myeloproliferative disorder or other neoplastic process.

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.