Jak-2 Mutation Detection (RNA Detection) Qualitative Test
Short Name: JAK2 Mutation (RNA)
Also known as: JAK2 V617F Mutation Test, JAK2 Exon 12 Mutation Test, JAK2 RNA Qualitative Test
Jak-2 Mutation Detection (RNA Detection) Qualitative Test test available at DNA Labs India for ₹9,350. Uses Real-Time PCR (RT-PCR), Sanger Sequencing on Peripheral Whole Blood samples. Results in Reports are delivered within 3 working days after sample collection. Email and WhatsApp reports are available within 36 hours after the report is generated.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of the JAK2 Mutation Detection (RNA) Qualitative Test is to aid in the diagnosis of myeloproliferative neoplasms by detecting the presence of JAK2 V617F or exon 12 mutations. It helps differentiate MPNs from reactive causes of elevated blood counts, guides prognosis, and assists in selecting targeted therapies such as JAK inhibitors. The test is also useful in monitoring minimal residual disease in some cases.
- Test Code
- 6171
- CPT Code
- 81270
- ICD Code
- D47.3
- Price
- ₹9,350
- Sample Type
- Peripheral Whole Blood
- Result Time
- Reports are delivered within 3 working days after sample collection. Email and WhatsApp reports are available within 36 hours after the report is generated.
- Fasting Required
- No
- Method
- Real-Time PCR (RT-PCR), Sanger Sequencing
Sample Collection
No fasting required. However, please inform your doctor about any medications you are taking, especially JAK inhibitors or anticoagulants. A signed consent form is required.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure takes about 5 minutes. You may feel a slight prick.
Report Delivery
You can resume normal activities immediately. Apply pressure to the puncture site to prevent bruising. No special precautions needed.
Timeline: Reports are delivered within 3 working days after sample collection. Email and WhatsApp reports are available within 36 hours after the report is generated.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the JAK2 Mutation Detection (RNA) Qualitative Test is to aid in the diagnosis of myeloproliferative neoplasms by detecting the presence of JAK2 V617F or exon 12 mutations. It helps differentiate MPNs from reactive causes of elevated blood counts, guides prognosis, and assists in selecting targeted therapies such as JAK inhibitors. The test is also useful in monitoring minimal residual disease in some cases.
How to Prepare
- Use EDTA (lavender top) tube for blood collection
- Fill the tube to the indicated mark to ensure adequate volume
- Mix gently by inverting 8-10 times to prevent clotting
- Transport the sample to the laboratory at 2-8°C if delay is expected
- Do not freeze the sample
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"JAK2 mutation testing is crucial for diagnosing myeloproliferative neoplasms. Early detection guides targeted therapy and improves patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted sample
- Incorrect tube (e.g., heparin or citrate)
- Sample received after 48 hours without proper storage
- Inadequate volume
Understanding Your Results
Positive for JAK2 V617F
Strongly supports diagnosis of polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Further evaluation needed.
Positive for JAK2 Exon 12
Often associated with polycythemia vera, especially in cases with isolated erythrocytosis.
Negative for both
Does not rule out MPN. Consider testing for CALR and MPL mutations. Reactive causes should be explored.
Consult a hematologist or clinical geneticist if you have persistent fatigue, unexplained bruising, splenomegaly, or abnormal blood counts. Early diagnosis of MPN can prevent complications like thrombosis or hemorrhage.
Limitations
- ⚠This test is qualitative and does not quantify the mutant allele burden
- ⚠Negative result does not exclude MPN; other mutations (CALR, MPL) may be present
- ⚠RNA-based detection may be affected by RNA degradation if sample not processed promptly
- ⚠Not recommended for screening asymptomatic individuals
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the puncture site
- ●Rare risk of infection
- ●Fainting or dizziness during blood draw
Interfering Factors
- ●Hemolyzed or clotted blood samples
- ●Insufficient sample volume
- ●Contamination during RNA extraction
- ●Recent blood transfusion (within 2 weeks) may dilute mutant allele
- ●Concurrent use of JAK inhibitor therapy may affect detection
Compare With Similar Tests
| Test | Jak-2 Mutation Detection (RNA Detection) Qualitative Test | JAK2 V617F Mutation (DNA) | CALR Mutation Test | MPL Mutation Test | Bone Marrow Biopsy |
|---|---|---|---|---|---|
| Comparison | Jak-2 Mutation Detection (RNA Detection) Qualitative Test | DNA-based test detects the mutation at genomic level, while RNA-based test detects expression. RNA may be more sensitive for low-level transcripts. | CALR mutations are found in a subset of MPN patients who are JAK2-negative. Testing both increases diagnostic yield. | MPL mutations are rare but also associated with MPN. Useful when JAK2 and CALR are negative. | Bone marrow biopsy provides morphological evidence of MPN, complementing molecular tests. |
Frequently Asked Questions
What is the cost of the JAK2 Mutation Detection (RNA) Qualitative Test?
What is the JAK2 mutation?
Who should get this test?
Is fasting required for this test?
What sample is needed?
How long does it take to get results?
What does a positive result mean?
Can this test detect all JAK2 mutations?
Is home sample collection available?
Is this test covered by insurance?
What is the difference between RNA and DNA based JAK2 testing?
What should I do if my result is negative but symptoms persist?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.