Jak 2 Mutation Detection Panel (Exons 12-15) Test
Short Name: Jak2 Mutation Panel
Also known as: JAK2 Mutation Test, JAK2 Exon 12-15 Panel
Jak 2 Mutation Detection Panel (Exons 12-15) Test test available at DNA Labs India for ₹9,000. Uses Sanger Sequencing on Bone Marrow/Peripheral Blood samples. Results in 7-8 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the Jak 2 Mutation Detection Panel (Exons 12-15) is to detect genetic mutations in the JAK2 gene that cause myeloproliferative neoplasms (MPNs). This test helps in confirming a diagnosis, differentiating between types of MPNs, and informing treatment strategies. It is recommended for individuals with symptoms of MPN, unexplained blood cell abnormalities, or a family history of blood disorders.
- Test Code
- 3070
- Price
- ₹9,000
- Sample Type
- Bone Marrow/Peripheral Blood
- Result Time
- 7-8 days
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation is required. A doctor's prescription may be needed, but it is not applicable for surgery, pregnancy, or travel abroad cases.
Method: Venipuncture or Bone Marrow Aspiration
Laboratory Analysis
A blood sample will be drawn from a vein, or bone marrow will be aspirated by a healthcare professional.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Monitor for any signs of infection or excessive bruising.
Timeline: 7-8 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Jak 2 Mutation Detection Panel (Exons 12-15) is to detect genetic mutations in the JAK2 gene that cause myeloproliferative neoplasms (MPNs). This test helps in confirming a diagnosis, differentiating between types of MPNs, and informing treatment strategies. It is recommended for individuals with symptoms of MPN, unexplained blood cell abnormalities, or a family history of blood disorders.
How to Prepare
- Ensure proper labeling of the sample with patient details
- Transport the sample in a cool pack as specified
- Follow aseptic techniques to avoid contamination
- Use the provided EDTA vacutainer for blood collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing JAK2 mutations associated with myeloproliferative neoplasms, aiding in early treatment and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolyzed or clotted
- Insufficient volume less than 2ml
- Improperly labeled or unlabeled sample
- Sample collected in wrong container
Understanding Your Results
Mutation Detected
Confirms the presence of a JAK2 mutation, supporting a diagnosis of myeloproliferative neoplasm such as polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Consult a hematologist for further management.
No Mutation Detected
JAK2 mutation in exons 12-15 not found. If symptoms persist, consider other diagnostic tests or genetic panels. Clinical correlation is recommended.
Consult a doctor if you experience symptoms of MPN, have abnormal blood test results, or if the test returns a positive result. A hematologist or oncologist can provide specialized care.
Limitations
- ⚠May not detect all JAK2 mutations outside exons 12-15
- ⚠Requires clinical correlation for diagnosis
- ⚠False negatives possible in early disease stages
- ⚠Does not rule out other genetic causes of MPNs
Risks & Considerations
- ●Minimal risk from blood draw: bruising, soreness, or infection at the puncture site
- ●Bone marrow aspiration risk: pain, bleeding, or rare infection
- ●Overall, the procedure is safe with low complication rates
Interfering Factors
- ●Hemolyzed blood sample
- ●Contaminated DNA
- ●Insufficient sample volume
- ●Recent blood transfusions
Compare With Similar Tests
| Test | Jak 2 Mutation Detection Panel (Exons 12-15) | Complete Blood Count (CBC) | Bone Marrow Biopsy | Erythropoietin Level Test | BCR-ABL1 Mutation Test |
|---|---|---|---|---|---|
| Comparison | Jak 2 Mutation Detection Panel (Exons 12-15) | CBC measures blood cell counts and can indicate abnormalities but does not detect specific genetic mutations like JAK2. | Biopsy examines bone marrow cell morphology and can suggest MPN but may not identify the underlying genetic cause without molecular testing. | This test measures erythropoietin levels, which can be low in polycythemia vera, but it does not confirm JAK2 mutations. | Used to diagnose chronic myeloid leukemia, which is distinct from JAK2-associated MPNs, helping differentiate between blood disorders. |
Frequently Asked Questions
What is the Jak2 Mutation Detection Panel (Exons 12-15)?
Why is this test recommended?
How is the test performed?
What do the results mean?
Is fasting required for this test?
How long does it take to get the results?
What is the cost of the test?
Is home sample collection available?
What are the symptoms of a JAK2 mutation?
Can this test detect all types of MPNs?
What should I do if the test is positive?
Is the test covered by insurance?
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