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JAK2 V617f Mutation

KSh18,075

JAK2 V617F Mutation In Kenya

The JAK2 V617F mutation is a somatic mutation found in the JAK2 gene, which plays a critical role in the signaling pathways that regulate blood cell production. This mutation is most commonly associated with myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The presence of the JAK2 V617F mutation leads to a constitutively active JAK2 protein, resulting in excessive production of blood cells and an increased risk of thrombotic events.

Indications of the Test

Testing for the JAK2 V617F mutation is indicated in patients presenting with symptoms suggestive of MPNs, such as:

  • Unexplained elevation in red blood cell mass (polycythemia)
  • Increased platelet counts (thrombocytosis)
  • Splenomegaly (enlarged spleen)
  • Symptoms of hyperviscosity (e.g., headaches, dizziness, visual disturbances)

This test can help confirm a diagnosis of MPN and guide treatment decisions.

Patient Preparation/Instructions

Patients should follow these instructions prior to the test:

  • Fasting: No specific fasting is required; however, it is recommended to avoid alcohol and excessive physical activity for 24 hours before the test.
  • Medications: Inform your healthcare provider about any medications you are taking, as some may affect the results.

Typical Reference Values

  • JAK2 V617F Mutation Status:
    • Positive: Indicates the presence of the mutation.
    • Negative: Indicates the absence of the mutation.

The prevalence of the JAK2 V617F mutation varies by condition; it is found in approximately 95% of patients with polycythemia vera and about 50-60% of those with primary myelofibrosis.

Turnaround Time

Results for the JAK2 V617F mutation test are typically available within 1 to 2 weeks, depending on the laboratory processing time.

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JAK2 V617f Mutation
KSh18,075
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