JAK2 Gene (V617F) Quantitative Test
About JAK2 Gene (V617F) Quantitative Test
| Field | Value |
|---|---|
| Also Known As | JAK2 V617F Mutation Detection (Quantitative), JAK2 Exon 14 Mutation Analysis, Janus Kinase 2 V617F Quantitative Assay |
| Sample Type | Whole blood (EDTA tube) or Bone marrow aspirate |
| Fasting Required | No fasting required |
| Report Time | 5 days |
| Recommended For | Adults of any gender with suspected myeloproliferative neoplasms or abnormal blood cell counts |
| Price | Starting at ₹5,400 |
What is a JAK2 Gene (V617F) Quantitative Test?
The JAK2 Gene (V617F) Quantitative Test detects and measures a specific genetic change in the JAK2 gene, known as the V617F mutation. It is used to help diagnose certain blood disorders called myeloproliferative neoplasms (MPNs), where the bone marrow produces too many blood cells.
Also known as the JAK2 V617F Mutation Detection (Quantitative) or Janus Kinase 2 V617F Quantitative Assay, this test uses either a blood or bone marrow sample and is typically ordered by a haematologist or oncologist.
What Does a JAK2 Gene (V617F) Quantitative Test Measure?
This test analyses a specific point mutation in the JAK2 gene and calculates how many cells in the sample carry it. The results provide information across three key areas:
| Parameter | What It Tells You |
|---|---|
| JAK2 V617F Mutation Status | Whether the V617F mutation is present (detected) or absent (not detected) |
| Mutant Allele Burden (%) | The proportion of cells carrying the mutation, expressed as a percentage of total JAK2 |
| Allele Fraction | Whether one or both copies of the gene are mutated (hemizygous or homozygous), useful when monitoring treatment |
Why is a JAK2 Gene (V617F) Quantitative Test Done?
A doctor may order this test when blood counts are abnormal or when certain symptoms point to a possible blood disorder. Below are the key reasons it is requested.
Common Symptoms That May Require This Test
- An enlarged spleen or liver, noticed as a feeling of fullness or discomfort in the abdomen
- Persistent fatigue that does not improve with rest
- Frequent headaches, dizziness, or blurred vision
- Unexplained weight loss
- Unusual blood clots in veins or arteries
- Unexplained bleeding or bruising
Conditions This Test Can Help Detect
- Polycythaemia vera (PV): the bone marrow produces too many red blood cells; more than 95% of PV patients carry this mutation
- Essential thrombocythaemia (ET): overproduction of platelets; present in approximately 50 to 60% of cases
- Primary myelofibrosis (PMF): excess scar tissue forms in the bone marrow, present in 50 to 60% of cases
- Less commonly: chronic myelomonocytic leukaemia (CMML), acute myeloid leukaemia (AML), and myelodysplastic syndrome (MDS)
JAK2 Gene (V617F) Quantitative Test for Chronic Disease Monitoring
The quantitative nature of this test makes it particularly valuable for patients already diagnosed with an MPN. Because the mutant allele burden correlates with how active the disease is, changes in the percentage over time can indicate whether the condition is progressing or responding to treatment. The test is often used to monitor the effect of JAK2 inhibitors, alpha-interferon, or allogeneic stem-cell transplantation, with repeat testing intervals set by the treating haematologist.
How to Prepare and What to Expect
Preparation for this test is straightforward, though there are a few practical steps worth following before your appointment.
Do You Need to Fast?
No fasting is required. You can eat and drink normally before the test. This applies whether a blood sample or a bone marrow sample is being collected.
Practical Tips Before Your Test
- Bring a detailed clinical history including your symptoms, previous test results, and family history, as this is required for the test
- Stay well hydrated before a blood draw; this makes your veins easier to access
- Inform your doctor or phlebotomist about any medications or supplements you are taking
- Avoid alcohol and excessive physical activity for 24 hours before the test
Step-by-Step Procedure
This test may use a blood sample, a bone marrow sample, or both. The collection process for each is described below.
Peripheral Blood Sample (Home Collection Available)
- A certified phlebotomist visits your home at the scheduled time.
- A tourniquet is applied to your upper arm to make the vein visible.
- Approximately 3 ml of blood is drawn from a vein in your arm into a lavender-top EDTA tube.
- The sample is labelled and stored at 2 to 8°C for safe transport to the laboratory.
- The sample reaches the lab and is analysed using real-time PCR (a technique that detects and quantifies genetic material).
- Results are reported as a mutation status and, if positive, as a percentage allele burden.
Bone Marrow Sample (Clinic Visit Required)
- The bone marrow procedure is performed at a Lupin Diagnostics centre or clinic by a trained specialist.
- The area (usually the back of the hip bone) is cleaned and numbed with a local anaesthetic.
- A needle is inserted into the bone to aspirate approximately 3 ml of liquid bone marrow into an EDTA tube.
- The sample is stored at 2 to 8°C and dispatched to the laboratory promptly.
- The same Real-Time PCR method is used to detect and quantify the JAK2 V617F mutation.
- Your report is delivered within 5 days.
Factors That Can Affect Accuracy
Certain conditions can influence the reliability of the result. These include:
- A very low proportion of mutated cells, which may fall below the test's detection threshold of approximately 1%
- Presence of substances in the sample that interfere with the PCR process
- Use of heparin-containing blood tubes instead of EDTA tubes
- Testing performed very early in the disease course, before enough mutated cells are present
- Recent blood transfusions, which can dilute the mutant cell population and give a falsely low allele burden
Understanding Your JAK2 Gene (V617F) Quantitative Test Results
Results from this test should always be reviewed alongside your clinical history and other investigations. The table below shows general reference values.
| Parameter | Normal Result | Positive (Detected) |
|---|---|---|
| JAK2 V617F Mutation Status | Not detected / Negative | Detected / Positive |
| JAK2 V617F Allele Burden | 0% | Greater than approximately 3.65% |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
In patients confirmed to have an MPN, allele burden typically ranges from 5% to 100%. The median burden in polycythaemia vera is approximately 58%, and in essential thrombocythaemia it is approximately 30%. A burden of 30% or above in ET may be associated with a higher risk of blood clots.
A negative result does not completely rule out an MPN. If clinical suspicion remains, your doctor may order tests for other mutations, such as CALR or MPL gene changes.
Results During Special Conditions
- Recent blood transfusions may reduce the detectable allele burden, potentially underestimating the true mutation level.
- Bone marrow samples and peripheral blood samples may sometimes show different allele burden percentages in the same patient.
- In rare cases, an unusual genetic variant near the mutation site may interfere with the test and produce a false-negative result.
- Samples collected in heparin tubes rather than EDTA tubes may interfere with the PCR assay and affect accuracy.
How to Maintain Healthy Levels
For patients living with an MPN diagnosis, general wellness steps can support overall health:
- Attend regular follow-up appointments with your haematologist to track disease progression and treatment response.
- Stay hydrated and maintain a balanced diet to support cardiovascular health, as MPNs can increase the risk of blood clots.
- Follow any treatment plan prescribed by your specialist and report new or worsening symptoms promptly.
Lupin Diagnostics JAK2 Gene (V617F) Quantitative Test Price and Home Collection
The JAK2 Gene (V617F) Quantitative Test is available at Lupin Diagnostics starting at ₹5,400. Home collection is available for the peripheral blood sample. The bone marrow sample must be collected at a clinic or Lupin Diagnostics centre.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 5400 |
| CHENNAI | 5400 |
| HYDERABAD | 5400 |
| KOLKATA | 5400 |
| NAVI MUMBAI | 5400 |
| PUNE | 5400 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to schedule your V617F test online booking:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist for the blood sample, or visit your nearest Lupin Diagnostics centre for the bone marrow sample.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Home collection for the peripheral blood sample is available across cities through Lupin Diagnostics' network of trained phlebotomists. All samples are processed in NABL-accredited laboratories, ensuring accurate and reliable results. Digital reports are accessible via email or WhatsApp once ready.
Frequently Asked Questions
The JAK2 V617F mutation is a change in the JAK2 gene where one amino acid (valine) is replaced by another (phenylalanine) at position 617. This causes a signalling protein in blood-forming cells to become permanently active, leading to the overproduction of blood cells. Detecting this mutation is a key step in diagnosing certain blood disorders.
A qualitative test simply tells you whether the mutation is present or absent. A quantitative test goes further by measuring what percentage of your cells carry the mutation, known as the allele burden. The V617F test in quantitative form is particularly useful for tracking how a condition changes over time and how well treatment is working.
Yes, a negative result does not completely rule out a myeloproliferative disorder. Other gene mutations, such as those in the CALR or MPL genes, can also cause similar conditions. Your doctor may order additional tests if clinical suspicion remains despite a negative result.
No fasting is needed. You can eat and drink as usual before the test. This applies to both the blood draw and the bone marrow collection procedure.
No, this mutation is acquired during a person's lifetime rather than inherited from parents. It arises as a change in a single DNA base pair and is not passed on to children.
The frequency of repeat testing depends on your individual treatment plan and is decided by your haematologist. During active treatment, testing is often repeated every 3 to 12 months to track changes in allele burden and assess how well therapy is working.
A positive result should be discussed with a haematologist (a specialist in blood disorders) or an oncologist (a cancer specialist). They will review your result alongside your symptoms and other investigations to determine the next steps in diagnosis and care.
JAK2 Gene (V617F) Quantitative Test
