JAK2 V617F Mutation Detection Test - Price, Purpose, Results

Introduction to JAK2 V617F Mutation Detection Test

The JAK2 V617F mutation detection test helps diagnose bone marrow disorders known as myeloproliferative neoplasms (MPNs). In these conditions, the bone marrow produces too many blood cells. The test plays a crucial role in diagnosing and distinguishing between various MPNs. 

The JAK2 (Janus Kinase 2) V617F mutation is easily detected by real-time PCR in patients with chronic myeloproliferative disorders (CMPDs). The CMPDs are classified as polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Further, MPN has been associated with 98% mutation in patients with PV, ET, and PMF with 50% showing JAK2 mutation. 

12 Common conditions that may prompt for a JAK2 V617F: 

1. Irritable bowel disease (IBD, including Crohn’s disease
2. Weakness and fatigue
3. Shortness of breath
4. Loss of appetite
5. Night sweats
6. Bone and joint pain 
7. Enlarged spleen 
8. Unexplained weight loss
9. Kidney stones
10. Gout 
11. Itchiness 
12. Numbness

A healthcare professional may suggest a need for a JAK2 V617F when you have a family history of the MPNs disorder, symptoms of MPNs, or you may have a bone marrow disorder, including PV, ET, and PMF. 

Healthy India Ki Trusted Lab-Redcliffe Labs offers a variety of routine and specialized tests for all age groups. The test involves a blood draw or bone marrow fluids. Book a  JAK2 V617F Mutation Detection Test online with a home sample collection, allowing you to get tested from the comfort of your home. 

We understand how precious your time is, and completing the test on time may be impossible. Our phlebotomist will visit your home with a sample collection kit and follow all guidelines to ensure smooth and efficient diagnostic services within a time frame. 

Test Details:

What is the purpose of a JAK2 V617F Mutation Detection Test?

A healthcare provider usually orders a JAK2 V617 F mutation detection test to support the diagnosis and classification of myeloproliferative neoplasms (MPNs), including: 

• Polycythemia Vera (PV)

This type of blood cancer causes your bone marrow to make too many red blood cells (RBCs). Too many RBCs can thicken your blood and slow its flow, which may result in several serious problems, such as blood clots. 

The average life expectancy of a person with PV is 20 years. 

• Essential Thrombocythemia (ET)

Essential thrombocythemia (ET) is a condition in which the body makes too many blood cells called platelet-producing cells (megakaryocytes) in the bone marrow. This condition may cause problems such as heart attacks and/or strokes. Although the exact cause of ET is unknown, experts believe that it may be a change in the JAK2 gene. 

The average life expectancy of a person with ET is also 20 years. 

• Primary Myelofibrosis (PMF)

Alternatively known as chronic idiopathic myelofibrosis, Primary myeloproliferative (PMF) is a condition in which there are too many platelet-producing cells, causing extensive scarring in the bone marrow. 

The average life expectancy of a person with PMV is 14 years. 

Other Reasons When a Doctor May Suggest a Test: 

Apart from the reasons above, the JAK2 V617F Mutation Detection Test may also be ordered: 

• As a follow-up Test, The JAK2 V617F is typically ordered if your hemoglobin, hematocrit, red blood cells, and/or platelet count significantly increases. 
• Symptoms suggestive of MPNs: The test may also be suggested when your healthcare professional suspects that you may have an MPNs, especially, polycythemia vera (PV), essential thrombocytopenia (ET), or primary myelofibrosis (PMF). 
• Certain types of cancer: Although rare, the JAK2 mutation is also found in people with chronic myelomonocytic leukemia (CMML), acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and chronic myeloid leukemia (CML). 

Common symptoms include a blood clot in the vein, bleeding, headache, vision problems, and an enlarged spleen. 

If your doctor has suggested a JAK2 V617F mutation analysis, you need not delay it. We are a call away to book a test with a home sample collection, ensuring 100% report correctness. Early detection is crucial to help a doctor diagnose the condition and suggest a personalized treatment plan to improve health outcomes. 

What are the benefits of the JAK2 V617F Mutation Detection Test?

A JAK2 V617F test may be ordered when your doctor suspects you have a myeloproliferative neoplasm (MPN). The need for the test arises when common routine blood tests such as complete blood count (CBC) reveal abnormal results linked to MPNs. 

The test may be advantageous for several reasons, such as: 

• Early diagnosis: The primary benefit of a JAK2 V617F mutation analysis test is to help in the early detection of myeloproliferative neoplasm, allowing for timely intervention. However, a negative  JAK2 V617F result does not confirm the absence of an MPN.
• Accurate disease classification: The test also distinguishes between different types of MPNs, especially the three main types: Polycythaemia vera (PV), Essential thrombocythaemia (ET), and Myelofibrosis (MF). This helps a doctor initiate the treatment plan. 
• Treatment guidance: The test helps a doctor determine which MPN you have and evaluate its severity. It also guides him on the need for medications when the JAK2 V617F mutation test is positive. 
• Prognostic Value: The JAK2 V617F test assists in predicting disease progression and monitoring response to therapy. 
• Distinguish from secondary causes: Besides all these reasons, the test helps rule out reasons for elevated blood cell counts, such as hypoxia or infections. 

What is the preparation for the test?

Preparing for the JAK2 V617F mutation detection test is simple. The test doesn’t require fasting, so you can consume your meals. Staying hydrated is also essential, as it helps keep more fluid in your veins, making a blood draw easier. 

If you take supplements or any medications, inform your healthcare provider about them before the test. Their ingredients can interfere with the test results and may not produce results accurately. 

Additionally, strenuous exercise before the test may cause hormone fluctuations, which you must be aware of. 

In case of any other doubt regarding the preparation for the JAK2 V617F test, ask your healthcare provider and get the most appropriate guidance. 

Procedure for the JAK2 V617F test 

Like preparation, the test’s procedure is also simple. It is performed primarily using a blood sample, but bone marrow fluids may also be used. Let’s learn about them in detail. 

• Blood Sample

A healthcare professional or phlebotomist will visit your home with a blood collection kit, including a needle holder, evacuated collection tubes, a gauze pad, and a tourniquet band. 

First, he will tie a tourniquet band around your arm, and search for a suitable vein in your arm. This is to avoid multiple puncture wounds. 

Then, he will insert a needle into a vein in your arm and collect blood. 

Then, he will release the band and apply a cotton gauze to prevent infection or excessive bleeding. 

After that, he will transfer the collected blood into a vial or test tube and label it. 

The sample will undergo laboratory analysis to detect the JAK2 V617F test mutation in blood cell DNA. 

Note: Inform a phlebotomist about your inhibitions regarding the blood test so that he can be more careful. Although rare, seek medical advice immediately in case of nonstop bleeding, bruise, or infection. 

• Bone Marrow Fluid test

A doctor can only suggest a bone marrow fluid test to confirm the diagnosis if a blood test is inconclusive. Bone marrow testing is needed to assess the severity and progression of polycythemia vera (PV), essential thrombocytopenia (ET), and primary myelofibrosis (PMF) 

During this test, the skin and underlying tissues are first numbed using anesthesia to minimize discomfort. 

Then, a syringe is used to withdraw the liquid from the hip bone. 

Finally, the collected sample is sent to the laboratory for DNA analysis. 

What does the test result indicate?

The JAK V617F mutation detection test may indicate positive or negative results: 

• Negative (normal) Result

This means that no JAK2 V617 F mutation has been detected. No presence of MPN is detected, or an MPN is due to a different genetic mutation. 

• Positive Result

A positive test result indicates the presence of the JAK2 V617F mutation. A positive JAK2 mutation test suggests a higher likelihood of polycythemia vera (PV), essential thrombocytopenia (ET), or primary myelofibrosis. 

Additionally, your healthcare provider may suggest additional testing such as a bone marrow biopsy, and check for other signs for confirmation. 

• Other Variants

Sometimes, a standard V617 F test fails to reveal JAK2 exon mutations linked to polycythemia vera, which is possible through this test. 

Note: More than 95% of individuals with PV and 50-60% with ET and PMF have a JAK 2 mutation. Consult your physician to understand the meaning of your specific test results and help your practitioner suggest a treatment plan to manage the condition effectively. 

JAK2 V617F Test Price - Redcliffe Labs! 

Yes, with Redcliffe Labs, you can now book a JAK2 V617 F Mutation Detection test at INR 5700 only, making it affordable for all. The Janus Kinase gene 2, or JAK2 for short, looks for mutations that are associated with bone marrow disorders caused by the production of too many red blood cells. 

Hence, if suggested, call us at 898 898 8787 or follow the steps below to book a test online with a home sample collection. The reports are typically available in 6 days. 

1. Visit the official Redcliffe Labs website: https://redcliffelabs.com/.
2. Browse or search for the specific test you need. 
3. Add the test to the cart. 
4. Complete the payment process online.

Note: You will receive confirmation through SMS and WhatsApp. 

JAK2 V617F Mutation Detection Test Cost in Different Cities

Note: We also offer JAK2 V617F Mutation Detection Test PAN India. Please call the number 8988988787 to check the availability of our services in your area.

Conclusion

The JAK2 V617F Mutation Detection Test is a valuable tool used to diagnose and manage blood disorders, particularly myeloproliferative neoplasms. While positive results suggest a high probability of bone marrow disorders, and may create a need for further tests and clinical evaluations. 

If you have MPN-related symptoms or abnormal blood counts, consulting a hematologist for further evaluation is recommended.