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JAK2 (Janus Kinase 2) V617F

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₹660 cashback

Effective price: ₹5940

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    blood sample




    Age group

    Above 10 years

    The Janus Kinase 2 (JAK2) gene codes for the JAK2 protein. This protein has a crucial role in cell division and growth, especially for blood cells in the bone marrow. However, mutations in the JAK2 gene can lead to bone marrow disorders that may produce too many blood cells of different types in the body.

    A JAK2 V617F test is essential to discover myeloproliferative neoplasms (MPNs). The body produces too many RBCs, platelets, and WBCs that might lead to different disorders like:

    • Polycythemia vera – Too many red cells.
    • Essential thrombocythemia – Too many platelets in the bone marrow. 
    • Primary myelofibrosis - Too many platelet-producing cells or cells that produce scar tissue in the bone marrow.

    The JAK2 mutation test is named the JAK2 V617F test because V617F is the specific mutation location on the JAK2 gene. This acquired point mutation replaces the amino acid Valine (V) with phenylalanine (F). As a result, the JAK2 protein remains consistently on and causes uncontrolled production of blood cells.

    Apollo 24|7 offers a JAK2 mutation test panel that analyses the presence of this mutation in your genetic makeup. The JAK2 RT-PCR test reflects that JAK2 mutations are acquired and not inherited. Furthermore, the mutations are somatic that cannot be passed on to the progeny.

    JAK2 mutation test uses the RT-PCR technique to find out the presence of the gene and check for gene expression. The polymerase chain reaction is a scientific procedure that amplifies a gene segment and looks for the presence of a targeted gene using probes.

    As soon as the targeted genes appear during the amplification process, the cycle threshold (CT) value is noted. A low CT value indicates the higher intensity of the gene expression, while a higher CT value indicates lower intensity. The RT-PCR process involves a few significant steps such as:

    • Collection of blood sample and extraction of mRNA from the sample
    • Quantification of the mRNA
    • cDNA synthesis for the mRNA
    • Quantification of cDNA
    • Using forward and reverse primers to start the process
    • Checking for gene expression using a real-time polymerase chain reaction

    JAK V617F test helps find bone marrow disorders. This is because nearly 100% of people with this mutation suffer from polycythemia vera, and almost 50% of the people have essential thrombocytosis primary myelofibrosis.

    People experiencing the following symptoms can undergo the JAK2 mutation test:

    • Enlargement in the spleen
    • Night sweats with regular chills
    • Sharp pain in the bones 
    • Decreased platelet count
    • Symptoms of anaemia
    • Unexplained bruising in the body 
    • Dizziness with headache
    • Vision problems 
    • Gout and kidney stones
    • Sudden weight loss 
    • Numbness and itchiness
    • Shortness of breath 
    • Stroke or heart attack 
    • Blood clots in the vein or artery

    While there is no cure for genetic mutations, taking the JAK2 mutation test at an early stage helps in managing the disorder and going for advanced therapies like stem cell transplantation.

    faqFrequently Asked Questions (FAQs)

    Frequently asked questions

    The JAK2 mutation test does not require special preparations because it is a simple blood test. The phlebotomist draws venous blood from the body by taking all the necessary precautions. Further tests are conducted in the laboratory using RT-PCR mix and synthesised components.
    A positive result for JAK2 mutations indicates the presence of mutations. However, the severity of the condition can be determined by other examinations like bone marrow biopsy to support the clinical signs in a person. A negative JAK2 RT-PCR test does not rule out the presence of bone marrow disorder. This is because if you have the relevant symptoms, you may be carrying a different type of JAK2 mutation.
    There is a possibility that your physician might order a repetition of the test when you have apparent symptoms. However, the JAK2 mutation test results might be unclear. This is because the sample may not contain enough cells that carry the mutation. Hence, the result would be false negative.
    No. Since the test involves a blood sample, the procedure has no risks. However, you must ensure that your service provider uses the proper techniques and follows safety protocols. These protocols include using a new syringe and discarding it, wearing gloves, cleaning the puncture site before and after collecting the sample, and wearing personal protection.
    No. The gene may also have other mutations that might cause some issues or disorders in the system.

    Why should Apollo be your preferred healthcare partner?

    • 39 Years of legacy and credibility in the healthcare industry.
    • NABL certified multi-channel digital healthcare platform.
    • Affordable diagnostic solutions with timely and accurate test results.
    • Up to 60% discount on Doorstep Diagnostic Tests, Home Sample Collection.
    • An inventory of over 100+ laboratories, spread across the country, operating out of 50+ cities with 700+ collection centres, serving over 1800+ pin codes.

    The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results

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