JAK2 Gene Thrombocythemia type 3, somatic NGS Genetic Test
Short Name: JAK2 NGS
Also known as: JAK2 V617F NGS, JAK2 Exon 12-14 NGS, Thrombocythemia Genetic Panel
JAK2 Gene Thrombocythemia type 3, 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 Reports are delivered within 3 to 4 weeks after sample receipt.. 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 essential thrombocythemia (type 3) and other myeloproliferative neoplasms. It aids in confirming diagnosis, differentiating from reactive thrombocytosis, and guiding treatment decisions. The NGS approach allows simultaneous analysis of multiple JAK2 exons, increasing diagnostic yield.
- Test Code
- 6023
- CPT Code
- 81445
- ICD Code
- D47.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform your doctor about any medications, especially anticoagulants or aspirin. A genetic counseling session will be arranged prior to sample collection.
Method: Venipuncture or Finger-prick (FTA card)
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. If using FTA card, a finger-prick blood drop is applied to the card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be transported to the laboratory for analysis. Results are typically available in 3-4 weeks.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
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 essential thrombocythemia (type 3) and other myeloproliferative neoplasms. It aids in confirming diagnosis, differentiating from reactive thrombocytosis, and guiding treatment decisions. The NGS approach allows simultaneous analysis of multiple JAK2 exons, increasing diagnostic yield.
How to Prepare
- Use EDTA tube for blood collection
- For FTA card, ensure the blood spot is completely dried before packaging
- Label the sample with patient ID and date
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"JAK2 mutations are central to the diagnosis of myeloproliferative neoplasms. NGS provides comprehensive detection of somatic variants, aiding in accurate classification and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolyzed sample
- Insufficient volume
- Mislabeled sample
- Sample received after prolonged transit (>72 hours)
Understanding Your Results
Indicates presence of myeloproliferative neoplasm, most commonly essential thrombocythemia or polycythemia vera. Clinical correlation required.
Often associated with polycythemia vera, but can be seen in ET. Further evaluation needed.
Does not rule out MPN; consider testing for CALR and MPL mutations. Reactive thrombocytosis should be excluded.
Consult your hematologist or oncologist if you have persistent thrombocytosis, symptoms of blood clots, or a family history of MPN. Early consultation can lead to timely management.
Limitations
- ⚠Test detects only JAK2 mutations; other genes (CALR, MPL) not covered
- ⚠Somatic mutations may be below detection limit in early disease
- ⚠Results should be interpreted in clinical context; not a standalone diagnostic tool
- ⚠Rare JAK2 variants outside covered regions may not be detected
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Clotted or hemolyzed blood sample
- ●Insufficient DNA quantity
- ●Recent blood transfusion (within 2 weeks) may dilute somatic mutation
- ●Contamination during sample collection
Compare With Similar Tests
| Test | JAK2 Gene Thrombocythemia type 3, somatic NGS Genetic Test | JAK2 V617F PCR | JAK2 Exon 12-14 Sanger Sequencing | JAK2 NGS Panel |
|---|---|---|---|---|
| Comparison | JAK2 Gene Thrombocythemia type 3, somatic NGS Genetic Test |
Frequently Asked Questions
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