JAK2 V617F Mutation Detection, Varies
Use
This test aids in distinguishing between a reactive blood cytosis and a chronic myeloproliferative disorder. It is particularly useful for detecting the JAK2 V617F mutation, which is present in a significant proportion of BCR::ABL1-negative myeloproliferative neoplasms, such as polycythemia vera, primary myelofibrosis, and essential thrombocythemia. Identification of the mutation helps establish a diagnosis for myeloproliferative neoplasms, although a negative result does not exclude them. The mutation is not found in chronic myelogenous leukemia or reactive conditions with elevated blood counts.
Special Instructions
To order this test, fill out the Hematopathology/Cytogenetics Test Request form if not ordering electronically. Label the specimen as extracted DNA and indicate the volume and concentration. Include Hematopathology Patient Information form if applicable. This test supports analysis through molecular genetics and hematopathology departments, requiring coordination with patient and specimen data.
Limitations
Positive JAK2 V617F mutation status must be correlated with clinical and other laboratory features; a positive result is not specific for a particular myeloproliferative neoplasm subtype. A negative result does not exclude the presence of a myeloproliferative neoplasm or other neoplastic process. There is a risk of rare cases where a different mutation may interfere with primer or probe binding, potentially causing a false-negative result.
New York Approved
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 43399-5
- 43399-5
- 53761-3
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Entire specimen
Minimum Volume
50 microliter at a concentration of 20 ng/microliter
Container
1.5- to 2-mL tube
Collection Instructions
Label specimen as extracted DNA from blood or bone marrow and indicate volume and concentration of the DNA.
Causes for Rejection
Bone marrow biopsies, Slides, Paraffin shavings, Frozen tissues, and paraffin-embedded tissues, Moderately to severely clotted specimens can cause rejection.