JAK2 Gene Polycythemia vera, somatic NGS Genetic Test
Short Name: JAK2 PV NGS
Also known as: JAK2 Mutation Analysis, PV NGS Panel, JAK2 V617F NGS
JAK2 Gene Polycythemia vera, somatic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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 this test is to detect somatic mutations in the JAK2 gene that are associated with polycythemia vera. It aids in confirming diagnosis, differentiating from secondary erythrocytosis, and guiding targeted therapy. NGS allows comprehensive analysis of all relevant exons, ensuring high accuracy.
- Test Code
- 6012
- CPT Code
- 81479
- ICD Code
- D45
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Inform your doctor about any medications or recent treatments.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a fingerstick blood drop is applied.
Report Delivery
No special precautions. You can resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect somatic mutations in the JAK2 gene that are associated with polycythemia vera. It aids in confirming diagnosis, differentiating from secondary erythrocytosis, and guiding targeted therapy. NGS allows comprehensive analysis of all relevant exons, ensuring high accuracy.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient name and date of birth.
- Transport at ambient temperature to the laboratory within 24 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"JAK2 mutation testing is essential for confirming the diagnosis of polycythemia vera and guiding treatment decisions. NGS provides comprehensive detection of JAK2 exon 12-15 mutations, which is critical for accurate risk stratification."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient quantity
- Improper labeling
- Sample received after prolonged transit (>48 hours)
Understanding Your Results
Consistent with polycythemia vera; high sensitivity for PV diagnosis.
Seen in some PV cases, especially with isolated erythrocytosis.
PV less likely; consider CALR/MPL testing or secondary causes.
Consult your oncologist or hematologist if you have symptoms like persistent headache, dizziness, or unexplained bruising, or if your blood counts are abnormal.
Limitations
- ⚠Mutations outside JAK2 exons 12-15 are not detected
- ⚠Sensitivity may be limited for very low variant allele frequency (<1%)
- ⚠Does not detect CALR or MPL mutations
- ⚠Somatic testing does not assess germline risk
Risks & Considerations
- ●Minimal risk of bleeding or infection at the puncture site
- ●Fainting or dizziness during blood draw
- ●Bruising
Interfering Factors
- ●Recent blood transfusion may dilute mutant allele frequency
- ●Chemotherapy or targeted therapy may suppress mutation
- ●Clonal hematopoiesis of indeterminate potential (CHIP) may cause false positives
- ●Poor DNA quality from hemolyzed samples
Compare With Similar Tests
| Test | JAK2 Gene Polycythemia vera, somatic NGS Genetic Test | JAK2 V617F PCR | JAK2 Exon 12 PCR | JAK2 NGS Panel |
|---|---|---|---|---|
| Comparison | JAK2 Gene Polycythemia vera, somatic NGS Genetic Test |
Frequently Asked Questions
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