JAK 2 Mutation Detection Qualitative PCR Test
Short Name: JAK2 Mutation Detection
Also known as: JAK2 V617F Mutation Test, JAK2 Qualitative PCR Test, JAK2 Gene Mutation Detection Test, Janus Kinase 2 Mutation Analysis
JAK 2 Mutation Detection Qualitative PCR Test test available at DNA Labs India for ₹7,500. Uses Real-Time PCR (Polymerase Chain Reaction) on Whole Blood samples. Results in Sample collection days: Monday and Thursday (by 11 AM). Report delivery: Wednesday and Saturday. Reports are available via online portal, email, and 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
The primary purpose of the JAK2 Mutation Detection Qualitative PCR Test is to detect the presence or absence of the JAK2 V617F mutation in peripheral blood. This mutation is a key molecular marker used in the diagnosis and classification of myeloproliferative neoplasms (MPNs) such as polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Identifying this mutation helps clinicians confirm a suspected MPN diagnosis, differentiate MPNs from reactive conditions that may cause similar blood count abnormalities, guide treatment decisions including the potential use of JAK inhibitor therapy, and establish a baseline for disease monitoring and prognostic assessment. This test is recommended as part of the WHO diagnostic criteria for MPNs and is an integral component of the haematological workup when an MPN is clinically suspected.
- Test Code
- 1133
- CPT Code
- 81270
- ICD Code
- D45
- Price
- ₹7,500
- Sample Type
- Whole Blood
- Result Time
- Sample collection days: Monday and Thursday (by 11 AM). Report delivery: Wednesday and Saturday. Reports are available via online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Real-Time PCR (Polymerase Chain Reaction)
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled with complete clinical information. No fasting is required. Inform your healthcare provider about any medications, especially cytoreductive agents, that you are currently taking.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 3 mL of whole blood from a vein in your arm using standard venipuncture technique. The blood will be transferred into a Lavender Top (EDTA) tube. The procedure typically takes less than 5 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or gauze for a few minutes to prevent bruising. You may resume normal activities immediately. The sample will be shipped refrigerated (not frozen) to the laboratory for processing.
Timeline: Sample collection days: Monday and Thursday (by 11 AM). Report delivery: Wednesday and Saturday. Reports are available via online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the JAK2 Mutation Detection Qualitative PCR Test is to detect the presence or absence of the JAK2 V617F mutation in peripheral blood. This mutation is a key molecular marker used in the diagnosis and classification of myeloproliferative neoplasms (MPNs) such as polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Identifying this mutation helps clinicians confirm a suspected MPN diagnosis, differentiate MPNs from reactive conditions that may cause similar blood count abnormalities, guide treatment decisions including the potential use of JAK inhibitor therapy, and establish a baseline for disease monitoring and prognostic assessment. This test is recommended as part of the WHO diagnostic criteria for MPNs and is an integral component of the haematological workup when an MPN is clinically suspected.
How to Prepare
- Collect 3 mL (minimum 2 mL) of whole blood by venipuncture into a Lavender Top (EDTA) tube.
- Gently invert the tube 8–10 times to mix the blood with the anticoagulant.
- Ship the sample refrigerated (2–8°C). Do not freeze the sample.
- A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory and must accompany the sample.
- Label the sample clearly with patient details, date, and time of collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The JAK2 V617F mutation is one of the most important molecular markers in the diagnostic workup of suspected myeloproliferative neoplasms. When a patient presents with unexplained polycythaemia, thrombocythaemia, or splenomegaly with constitutional symptoms, ordering this qualitative PCR test should be a priority. A positive result, combined with clinical and haematological findings, can confirm the diagnosis of polycythaemia vera, essential thrombocythaemia, or primary myelofibrosis and guide treatment decisions including the use of JAK inhibitors. However, a negative result does not exclude an MPN, and additional testing for CALR and MPL mutations should be considered. Early molecular diagnosis allows for timely initiation of targeted therapy and improved long-term patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen samples — will not be processed
- Samples received without a duly completed Genomics Clinical Information Requisition Form (Form 20)
- Insufficient sample volume (less than 2 mL)
- Hemolyzed, clotted, or improperly labeled samples
- Samples received beyond the stability window (more than 6 hours at room temperature or more than 72 hours refrigerated)
Understanding Your Results
JAK2 V617F Mutation Detected
The JAK2 V617F mutation is present in the sample. This finding is consistent with a diagnosis of a myeloproliferative neoplasm, most commonly polycythaemia vera (PV), essential thrombocythaemia (ET), or primary myelofibrosis (PMF). Clinical correlation with blood counts, bone marrow biopsy findings, and patient history is essential for definitive classification. Consultation with a haematologist or oncologist is recommended for further evaluation, risk stratification, and treatment planning.
JAK2 V617F Mutation Not Detected
The JAK2 V617F mutation is not detected in the sample. This result does not completely exclude a myeloproliferative neoplasm, as a significant proportion of ET and PMF cases are driven by CALR (calreticulin) or MPL mutations instead. If clinical suspicion for an MPN remains high, additional molecular testing for CALR and MPL mutations along with a bone marrow biopsy should be considered. Clinical correlation and specialist consultation are advised.
Consult a haematologist or oncologist if your JAK2 V617F test result is positive, or if your result is negative but you have persistent unexplained abnormalities in your complete blood count such as elevated red blood cells, platelets, or white blood cells. Additionally, seek medical advice if you experience symptoms such as persistent fatigue, unexplained weight loss, night sweats, an enlarged spleen, or abnormal bleeding or bruising. Early specialist evaluation is critical for appropriate diagnosis, risk assessment, and treatment planning.
Limitations
- ⚠This is a qualitative test and does not quantify the JAK2 V617F mutant allele burden
- ⚠A negative result does not exclude a myeloproliferative neoplasm, as MPNs may be driven by other mutations such as CALR or MPL
- ⚠This assay specifically targets the JAK2 V617F mutation and does not detect mutations in other exons of the JAK2 gene (e.g., exon 12 mutations seen in some cases of polycythaemia vera)
- ⚠Results must always be interpreted in conjunction with clinical findings, complete blood count results, bone marrow morphology, and other relevant laboratory data
- ⚠False negatives may occur if the mutant allele frequency is below the analytical sensitivity threshold of the assay
Risks & Considerations
- ●Minor bruising or soreness at the venipuncture site
- ●Rare risk of mild pain or discomfort during blood draw
- ●Very rare risk of infection at the needle insertion site
- ●No significant procedural risks beyond those of a standard blood draw
Interfering Factors
- ●Hemolyzed blood samples may affect DNA quality and yield unreliable results
- ●Clotted samples are unsuitable for analysis and will be rejected
- ●Samples stored beyond the recommended stability window (beyond 6 hours at room temperature or 72 hours refrigerated) may yield degraded DNA
- ●Concurrent cytoreductive therapy or recent transfusions may reduce the proportion of mutant alleles, potentially affecting detection sensitivity
Compare With Similar Tests
| Test | JAK 2 Mutation Detection Qualitative PCR Test | CALR Mutation Detection Test | MPL Mutation Detection Test | BCR-ABL1 Qualitative PCR Test | JAK2 Exon 12 Mutation Analysis | Quantitative JAK2 V617F Mutation (Allele Burden) Test |
|---|---|---|---|---|---|---|
| Comparison | JAK 2 Mutation Detection Qualitative PCR Test | Detects calreticulin gene mutations found in approximately 25–30% of ET and PMF cases that are JAK2 V617F-negative. Often ordered as a complementary test when JAK2 is negative but MPN is suspected. | Identifies MPL gene mutations (W515L/K) seen in approximately 5% of ET and PMF patients. Used as a third-line molecular test when both JAK2 and CALR are negative. | Detects the BCR-ABL1 fusion gene characteristic of chronic myeloid leukaemia (CML). Essential for differentiating CML from JAK2-mutated MPNs, as both may present with elevated blood counts. | Targets JAK2 mutations in exon 12, which are found in a small subset of polycythaemia vera patients who are V617F-negative. Ordered when PV is clinically suspected but V617F is not detected. | Unlike the qualitative test, the quantitative assay measures the percentage of mutant alleles. Useful for monitoring treatment response and disease progression in patients with a confirmed MPN diagnosis. |
Frequently Asked Questions
What is the JAK2 Mutation Detection Qualitative PCR Test?
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