JAK2 Gene Thrombocytosis, familial, JAK2 related NGS Genetic Test
Short Name: JAK2 Thrombocytosis NGS Test
Also known as: JAK2 Mutation Test, JAK2 Gene Analysis for Thrombocytosis, Familial Thrombocytosis Genetic Test
JAK2 Gene Thrombocytosis, familial, JAK2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the JAK2 Gene Thrombocytosis NGS Genetic Test is to detect mutations in the JAK2 gene associated with familial thrombocytosis. This test aids in early diagnosis, risk assessment, and guiding treatment strategies to prevent thrombotic events and other complications.
- Test Code
- 2695
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and family pedigree as part of genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn via venipuncture or a drop of blood collected on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the JAK2 Gene Thrombocytosis NGS Genetic Test is to detect mutations in the JAK2 gene associated with familial thrombocytosis. This test aids in early diagnosis, risk assessment, and guiding treatment strategies to prevent thrombotic events and other complications.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile collection tubes or FTA cards as specified
- Transport samples at ambient temperature to the lab promptly
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early detection of JAK2 mutations through NGS testing is crucial for managing familial thrombocytosis and preventing complications like blood clots."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
Understanding Your Results
Positive for JAK2 Mutation
Confirms diagnosis of JAK2-related thrombocytosis. Consult a hematologist for management and family screening.
Negative for JAK2 Mutation
No JAK2 mutation detected. Consider other genetic or non-genetic causes of thrombocytosis.
Consult a doctor if you experience symptoms of thrombocytosis, have a family history of the disorder, or receive a positive test result for further evaluation and management.
Limitations
- ⚠This test detects only JAK2 gene mutations; other genetic causes of thrombocytosis may not be identified
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠False negatives or positives are possible but rare with NGS technology
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions affecting DNA integrity
- ●Improper sample storage or handling
Compare With Similar Tests
| Test | JAK2 Gene Thrombocytosis, familial, JAK2 related NGS Genetic Test | JAK2 V617F Mutation Test | Complete Blood Count (CBC) | Bone Marrow Biopsy |
|---|---|---|---|---|
| Comparison | JAK2 Gene Thrombocytosis, familial, JAK2 related NGS Genetic Test | Targets a specific common mutation; NGS covers broader JAK2 gene analysis. | Measures platelet count but does not identify genetic causes. | Invasive procedure for detailed marrow assessment; genetic test is non-invasive. |
Frequently Asked Questions
What is JAK2 Gene Thrombocytosis?
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