JAK 2 V617F CALR & MPL Mutation Detection Profile Test
Short Name: JAK2/CALR/MPL Mutation Profile
Also known as: JAK2 CALR MPL Panel, MPN Mutation Panel, Myeloproliferative Neoplasm Genetic Panel, Philadelphia-Negative MPN Panel
JAK 2 V617F CALR & MPL Mutation Detection Profile Test test available at DNA Labs India for ₹15,000. Uses Real Time PCR, Sequencing, Fragment Analysis on Whole Blood (EDTA) samples. Results in Sample Mon by 11 am; Report Saturday. Results are delivered through our secure online portal, email, or WhatsApp.. 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
This test is ordered to detect the presence of JAK2 V617F, CALR, or MPL gene mutations, which are hallmark genetic markers of BCR-ABL1-negative myeloproliferative neoplasms (MPNs). The test helps confirm or rule out an MPN diagnosis when a patient presents with abnormal blood counts or clinical features suggestive of polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Identifying the specific mutation also aids in prognosis determination, monitoring disease progression, and selecting targeted therapies such as JAK inhibitors.
- Test Code
- 1136
- CPT Code
- 81270, 81219, 81339
- ICD Code
- D45, D47.1, D47.4
- Price
- ₹15,000
- Sample Type
- Whole Blood (EDTA)
- Result Time
- Sample Mon by 11 am; Report Saturday. Results are delivered through our secure online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Real Time PCR, Sequencing, Fragment Analysis
Sample Collection
Duly fill the Genomics Clinical Information Requisition Form (Form 20). This is mandatory for all samples. No fasting is required. Inform your physician about any recent blood transfusions, chemotherapy, or ongoing treatments.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 3 mL of whole blood via venipuncture from a vein in your arm into a Lavender Top (EDTA) tube. The procedure typically takes 5–10 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball for 3–5 minutes. You may resume normal activities immediately. Avoid heavy lifting with the collection arm for a few hours.
Timeline: Sample Mon by 11 am; Report Saturday. Results are delivered through our secure online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
This test is ordered to detect the presence of JAK2 V617F, CALR, or MPL gene mutations, which are hallmark genetic markers of BCR-ABL1-negative myeloproliferative neoplasms (MPNs). The test helps confirm or rule out an MPN diagnosis when a patient presents with abnormal blood counts or clinical features suggestive of polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Identifying the specific mutation also aids in prognosis determination, monitoring disease progression, and selecting targeted therapies such as JAK inhibitors.
How to Prepare
- Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and signed
- Collect 3 mL (minimum 2 mL) whole blood in a Lavender Top (EDTA) tube
- Gently invert the tube 8–10 times after collection to ensure proper mixing with anticoagulant
- Ship the sample refrigerated (2–8°C). Do NOT freeze the sample
- Label the tube clearly with patient name, date of birth, collection date and time
- Transport the sample to the laboratory within the specified stability window
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The JAK2, CALR, and MPL mutation panel is an essential diagnostic tool for evaluating patients with suspected myeloproliferative neoplasms. Identifying the specific driver mutation guides prognosis assessment and helps determine the most appropriate therapeutic strategy, including targeted JAK inhibitor therapy where indicated. I recommend this test for any patient presenting with unexplained erythrocytosis, thrombocytosis, or leukocytosis, especially when combined with bone marrow findings suggestive of an MPN."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed sample
- Frozen EDTA blood sample
- Sample collected in incorrect tube type (non-EDTA)
- Insufficient sample volume (less than 2 mL)
- Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
- Unlabeled or mislabeled specimen
Understanding Your Results
The JAK2 V617F mutation is present. This is strongly associated with polycythemia vera (PV), and is also commonly found in essential thrombocythemia (ET) and primary myelofibrosis (PMF). Correlation with CBC and bone marrow biopsy is recommended for definitive diagnosis.
A CALR exon 9 mutation is present. This finding is associated with essential thrombocythemia (ET) and primary myelofibrosis (PMF), typically in patients who are JAK2 V617F-negative. CALR-mutant MPNs generally carry a distinct clinical and prognostic profile.
An MPL mutation (such as W515L/K or S505N) is present. This is associated with essential thrombocythemia (ET) and primary myelofibrosis (PMF). MPL-mutant MPNs are less common but require appropriate clinical management and monitoring.
No JAK2 V617F, CALR, or MPL mutations were detected. While this makes an MPN less likely, approximately 10–15% of ET and PMF cases are triple-negative. Further clinical evaluation, including bone marrow biopsy and additional molecular testing, may be warranted if clinical suspicion remains high.
Consult your hematologist or oncologist if you have unexplained persistently elevated blood cell counts (red cells, white cells, or platelets), experience symptoms such as fatigue, night sweats, unexplained weight loss, enlarged spleen, or have a history of blood clots. Also consult if your test results show a detected mutation or if you have a family history of myeloproliferative neoplasms.
Limitations
- ⚠This test detects only JAK2 V617F, CALR exon 9, and MPL exon 10 mutations; other rare mutations in these or other genes are not covered
- ⚠A negative result does not entirely exclude an MPN, as a small percentage of MPN cases may be triple-negative
- ⚠This test is not designed to quantify mutant allele burden; a separate quantitative assay may be needed for monitoring
- ⚠Results should always be interpreted in conjunction with clinical findings, CBC, bone marrow biopsy, and other laboratory data
Risks & Considerations
- ●Minimal risk associated with standard venipuncture, such as slight bruising or discomfort at the puncture site
- ●Rare risk of lightheadedness or minor bleeding in individuals with clotting disorders
- ●No significant medical risks are associated with the test itself
Interfering Factors
- ●Recent blood transfusion may dilute mutant allele concentration and affect detection sensitivity
- ●Chemotherapy or targeted therapy prior to sample collection may reduce mutant cell burden
- ●Improper sample storage (freezing EDTA blood) can degrade DNA and compromise results
- ●Sample hemolysis or clotted specimen may lead to test rejection or inaccurate results
Compare With Similar Tests
| Test | JAK 2 V617F CALR & MPL Mutation Detection Profile Test | Complete Blood Count (CBC) | Bone Marrow Biopsy | BCR-ABL1 Gene Rearrangement Test |
|---|---|---|---|---|
| Comparison | JAK 2 V617F CALR & MPL Mutation Detection Profile Test | A CBC provides initial screening by revealing abnormal blood cell counts but cannot identify the underlying genetic cause. The JAK2/CALR/MPL panel provides specific molecular confirmation once CBC abnormalities are detected. | A bone marrow biopsy examines the physical structure and cellularity of the marrow. It is often performed alongside genetic mutation testing for a comprehensive MPN diagnosis. The molecular panel identifies the specific driver mutation, while biopsy reveals morphological changes. | BCR-ABL1 testing rules out chronic myeloid leukemia (CML). The JAK2/CALR/MPL panel specifically targets BCR-ABL1-negative MPNs. Both tests may be ordered together to differentiate CML from other myeloproliferative conditions. |
Frequently Asked Questions
What is the JAK2 V617F, CALR & MPL Mutation Detection Profile Test?
Who should take this test?
What sample is required for this test?
Is fasting required before this test?
How long does it take to get the results?
What does it mean if the test detects a mutation?
What does it mean if all three mutations are not detected?
What are myeloproliferative neoplasms (MPNs)?
Is this test covered by insurance in India?
How accurate is this test?
Do I need a doctor's prescription to take this test?
Is home sample collection available for this test?
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