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JAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection Test

DNA Labs India | ISO 9001:2015 Certified

JAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection Test

Short Name: JAK2 V617F/Exon12 Reflex Test

Also known as: JAK2 Mutation Reflex Test, JAK2 V617F and Exon 12 Reflex Test

JAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection Test test available at DNA Labs India for ₹10,500. Uses Real Time PCR, Fragment Analysis on Whole Blood samples. Results in Reports are typically available within 5-7 days after sample collection.. Free home collection in 300+ cities across India.

Genetic Mutation Detection🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose polycythemia vera by detecting mutations in the JAK2 gene, specifically the V617F and exon 12 mutations, which are key biomarkers for the disease. It helps confirm clinical suspicion when standard tests are inconclusive.

Test Code
1132
Price
₹10,500
Sample Type
Whole Blood
Result Time
Reports are typically available within 5-7 days after sample collection.
Fasting Required
No
Method
Real Time PCR, Fragment Analysis
Step 1

Sample Collection

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect 3 mL whole blood in an EDTA tube.

Step 3

Report Delivery

Ship refrigerated. DO NOT FREEZE. Ensure proper labeling and documentation.

Timeline: Reports are typically available within 5-7 days after sample collection.

Patient Instructions

1
Before the Test:Ensure the Genomics Clinical Information Requisition Form (Form 20) is filled. No special preparation needed.
2
During the Test:Blood sample will be drawn at a lab or home by a trained professional.
3
After the Test:Apply pressure to the puncture site to prevent bruising. Resume normal activities.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose polycythemia vera by detecting mutations in the JAK2 gene, specifically the V617F and exon 12 mutations, which are key biomarkers for the disease. It helps confirm clinical suspicion when standard tests are inconclusive.

How to Prepare

  • Collect 3 mL whole blood from a Lavender Top (EDTA) tube.
  • Ship refrigerated. DO NOT FREEZE.
  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for confirming polycythemia vera in patients with suspected myeloproliferative disorders, ensuring targeted treatment and monitoring."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume3 mL (2 mL min.)
ContainerLavender Top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator: 72 hours
Frozen: Not acceptable
Sample Rejection Criteria:
  • Incorrect sample type or volume
  • Hemolyzed or clotted sample
  • Missing or incomplete requisition form
  • Improper storage conditions

Understanding Your Results

Results indicate the presence or absence of JAK2 mutations. A positive result for either mutation supports a diagnosis of polycythemia vera, while negative results may require further clinical evaluation.
Positive for JAK2 V617F: Strongly suggests polycythemia vera.
Negative for V617F but positive for Exon 12: Confirms polycythemia vera in a subset of patients.
Negative for both mutations: Other conditions such as secondary erythrocytosis should be considered.
Results should be interpreted alongside clinical findings and other lab tests.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like fatigue, headaches, or dizziness persist after test results, or if results are positive for further management and treatment planning.

Limitations

  • Does not detect all JAK2 mutations
  • Requires clinical correlation for diagnosis
  • False negatives possible in rare cases

Risks & Considerations

  • Minor bruising or pain at the blood draw site
  • Rare risk of infection or fainting

Interfering Factors

  • Sample contamination
  • Improper sample storage or handling
  • Recent blood transfusions may affect results

Compare With Similar Tests

TestJAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection TestComplete Blood Count (CBC)Bone Marrow BiopsyErythropoietin (EPO) Level
ComparisonJAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection Test

Frequently Asked Questions

What is the JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test?
It is a genetic test that first checks for the JAK2 V617F mutation; if negative, it reflexes to test for JAK2 exon 12 mutations, used to diagnose polycythemia vera.
Who should take this test?
Individuals with symptoms like fatigue, headaches, or unexplained red blood cell increase, or those with negative JAK2 V617F results but clinical suspicion.
How is the test performed?
A blood sample is collected and analyzed using Real Time PCR and Fragment Analysis to detect JAK2 mutations.
What does a positive result mean?
A positive result for either JAK2 V617F or exon 12 mutation indicates a high likelihood of polycythemia vera.
What if the test is negative?
A negative result may suggest other conditions; further clinical evaluation and tests are recommended.
How long does it take to get results?
Results are usually available within 5-7 days after sample collection.
Is the test covered by insurance?
Most insurance plans in India do not cover this test; it is typically paid out of pocket.
What are the risks of the test?
Risks are minimal and include minor bruising or discomfort at the blood draw site.
How should I prepare for the test?
No special preparation is needed, but ensure the Genomics Clinical Information Requisition Form (Form 20) is completed.
What is the cost of the test?
The test costs INR 10,500 at DNA Labs India, with free home sample collection.
Can I take this test at home?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How accurate is the test?
The test is highly accurate for detecting JAK2 mutations, but results should be correlated with clinical findings.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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