JAK2 V617F Mutation Analysis in Ahmednagar - Metropolis Healthcare
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JAK2 V617F Mutation Analysis in Ahmednagar



JAK2V617 Mutation Analysis, with Reflex to Jak2 Ex- 12, CALR Ex-9 Mutation and MPL W515, S505 Mutation Analysis is a test used to diagnose myeloproliferative disorders such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. These disorders are types of blood cancers that are caused due to abnormal mutation in the stem cells in the bone marrow.

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    Myeloproliferative disorders result in an abnormal increase in blood cells (platelets, white blood cells, and red blood cells) in the bone marrow.

    The type of disorder is dependent on the type of blood cell your body is producing in excess, which includes:

    • Polycythemia vera is a disease when the bone marrow makes too many red blood cells.
    • Individuals affected with essential thrombocythemia have too many platelet-producing cells (megakaryocytes) in the bone marrow.
    • Patients with primary myelofibrosis or chronic idiopathic myelofibrosis or agnogenic myeloid metaplasia have a larger number of platelet-producing cells and cells that produce scar tissue in the bone marrow.

    How the test is done?
    A blood sample is collected by inserting a needle into a vein in the arm. However, in few cases, a bone marrow aspiration and biopsy are performed to obtain a sample for testing.

Your doctor can order JAK2V617 Mutation Analysis if he/she suspects that you may have myeloproliferative disorders. These are advised when your routine blood tests like complete blood count (CBC), etc., show abnormalities related to bone marrow cancers. JAK2V617 Mutation Analysis is done and interpreted along with bone marrow biopsy.

Few reasons for which your healthcare provider doubts myeloproliferative disorders and can ask for this test include:

  • Splenomegaly or hepatomegaly
  • Stroke
  • Heart attack
  • A blood clot in a vein or artery
  • Bleeding
  • Headache
  • Dizziness
  • Fatigue
  • Fever
  • Vision problems
  • Numbness
  • Itchiness
  • Gout
  • Kidney stones
  • Difficulty in breathing
  • Unexplained weight loss.

Patients with myeloproliferative disorders may have no symptoms to very mild ones that may get undetected for years before often being diagnosed during a routine physical check-up.

The V617F JAK2 gene mutation results in the production of a JAK2 protein that is activated and remains turned on, which leads to the overproduction of abnormal blood cells.

Lack of symptoms in the early stages of these types of blood cancers makes the diagnosis difficult. Besides the diagnosis, the treatment also poses various challenges. These disorders are difficult to cure and the main treatment revolves around normalizing your blood cells and reducing the risk for major complications.

Although the presence of JAK2 mutation is related to the uncontrolled growth of blood cells in myeloproliferative disorders, it also acts as a potential treatment approach for some of these diseases. Studies suggest that one JAK2 inhibitor has been approved for the treatment of intermediate and high-risk myelofibrosis.


Mutation of Janus kinase (JAK) 2 gene (JAK2) gene is most commonly detected in patients with myeloproliferative disorders. The main genetic test performed for JAK2 mutations that can cause these blood cancers is JAK2 V617F. The test first will evaluate the presence of mutation of JAK2 gene, followed by exon 12 mutation, CALR mutation, MPL mutation, if JAK2 mutation analysis is negative.

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JAK2 V617F Mutation Analysis