Test Overview
Test Methodology

Polymerase Chain Reaction (PCR)

Test Usage

Detection of the JAK2 c.1849G>T (V617F) mutation in myeloproliferative neoplasms: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This test is indicated for evaluation of patients with unexplained and sustained elevation of red blood cell or platelet counts, splenomegaly or bone marrow fibrosis of undetermined causation, and patients in whom a diagnosis of a chronic myeloproliferative disorder is a consideration. The JAK2 V617F mutation is detectable in approximately 95% PV, 55% ET, and 65% PMF patients. A negative result does not rule out a diagnosis of PV, ET, or PMF.

Reference Range *

Interpretive report provided.

Test Limitations

The limit of detection of this assay is approximately 1% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level. In addition, low-level mutations (<1-5%) have been described in individuals with other evidence of a myeloproliferative neoplasm. Clinicopathologic correlation with JAK2 V617F results is required.

Test Details
Days Set Up
Monday - Friday
Analytic Time

2 - 7 days

Soft Order Code
JAK2
MiChart Code
JAK2 V617F Mutation
Synonyms
  • JAK2 c.1849G>T (V617F) Mutation
  • Tyrosine kinase Mutation
  • Janus kinase 2 gene Mutation
  • LEUKOCYTE ALKALINE PHOSPHATASE
  • JAK2 (V617F) Mutation Analysis
  • JAK2
  • MLABEL
  • JAK2S
  • JAK2 (V617F) Mutation Shadow
  • Polycythemia Vera
  • Essential Thrombocythemia
  • Idiopathic Myelofibrosis
  • LAPA
  • LAP Score
Laboratory
Molecular Diagnostics
Section
Molecular Diagnostics
Specimen Requirements
Collection Instructions

Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice.

Alternate Specimen
The preferred specimen is whole blood or bone marrow collected in EDTA (lavender top). However, ACD (yellow top) and heparin (green top) may also be accepted. Previously extracted DNA may also be accepted.
Lavender Top Tube
Normal Volume
5 mL EDTA (lavender) whole blood; 3 mL EDTA (lavender) bone marrow; Fresh/frozen tissue and fresh aspirates or body fluids; Fresh/frozen cells in RPMI. Extracted DNA is also acceptable if extracted in a CLIA certified laboratory.
Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81270
Fee Code
21671
Pro Fee CPT
G0452-26
Prior Authorization
The Prior Authorization form is required for this test. Click here to download the PDF.
LOINC
53761-3
NY State Approved
No