EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic Test
Short Name: EGLN1 Erythrocytosis Test
Also known as: EGLN1-related erythrocytosis, Familial erythrocytosis type 3, ECYT3
EGLN1 Gene Erythrocytosis, familial type 3 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 3 to 4 weeks. 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 the EGLN1 Gene Erythrocytosis, Familial Type 3 NGS Genetic Test is to detect mutations in the EGLN1 gene that cause familial erythrocytosis type 3. This aids in confirming diagnosis, differentiating from other causes of polycythemia, guiding treatment strategies, and enabling genetic counseling for affected families.
- Test Code
- 2680
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart. No specific fasting required unless advised by a physician.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture from a vein in the arm. Alternatively, extracted DNA or a blood drop on FTA card can be used.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Results will be available in 3 to 4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EGLN1 Gene Erythrocytosis, Familial Type 3 NGS Genetic Test is to detect mutations in the EGLN1 gene that cause familial erythrocytosis type 3. This aids in confirming diagnosis, differentiating from other causes of polycythemia, guiding treatment strategies, and enabling genetic counseling for affected families.
How to Prepare
- Ensure proper identification and consent
- Use sterile collection techniques
- Label samples accurately
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing familial erythrocytosis type 3, helping to guide personalized treatment and family screening. Early detection can prevent complications like blood clots."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Positive for pathogenic EGLN1 mutation
Confirms diagnosis of familial erythrocytosis type 3. Genetic counseling recommended for family screening and management.
Negative for pathogenic mutations
EGLN1 gene mutations not detected. Consider other genetic or acquired causes of erythrocytosis.
Variant of uncertain significance (VUS)
Further testing or clinical correlation needed. Genetic counseling advised.
Consult a hematologist or geneticist if you experience symptoms like persistent headaches, dizziness, or fatigue, or if you have a family history of erythrocytosis. Seek immediate medical attention for severe symptoms such as chest pain or stroke signs.
Limitations
- ⚠May not detect all rare or novel mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have implications for family members
- ⚠Not a standalone diagnostic tool; clinical correlation is essential
Risks & Considerations
- ●Minimal risks from blood draw: bruising, soreness, or rare infection
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusions
- ●Hemolyzed samples
Compare With Similar Tests
| Test | EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic Test | JAK2 V617F Mutation Test | Erythropoietin (EPO) Level Test | Complete Blood Count (CBC) | Hemoglobin Electrophoresis |
|---|---|---|---|---|---|
| Comparison | EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic Test | Detects JAK2 mutations common in polycythemia vera, but not specific for familial erythrocytosis type 3. | Measures EPO levels to differentiate primary vs. secondary erythrocytosis, but does not identify genetic causes. | Basic screening for elevated red blood cells, but cannot diagnose genetic conditions. | Identifies hemoglobin disorders, not directly related to EGLN1 mutations. |
Frequently Asked Questions
What is EGLN1 Gene Erythrocytosis, Familial Type 3?
Who should consider this genetic test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do positive results mean?
Are there any risks associated with the test?
Can this test diagnose other types of erythrocytosis?
Is genetic counseling included?
What should I do before the test?
Is the test covered by insurance?
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