Erythropoietin Receptor Gene Mutation Analysis Test
Short Name: EPO Receptor Gene Mutation Analysis
Also known as: EPO Receptor Mutation Analysis, EPOR Gene Test, Erythropoietin Receptor Genetic Test
Erythropoietin Receptor Gene Mutation Analysis Test test available at DNA Labs India for ₹9,000. Uses Sanger Sequencing on Peripheral blood samples. Results in 7-8 business days from 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 Erythropoietin Receptor Gene Mutation Analysis is to detect genetic variations in the EPOR gene that may cause disorders affecting red blood cell production. This test aids in diagnosing hereditary anemia or erythrocytosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.
- Test Code
- 2998
- Price
- ₹9,000
- Sample Type
- Peripheral blood
- Result Time
- 7-8 business days from sample receipt
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No specific preparation is required. Ensure a doctor's prescription is available if applicable.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will collect a peripheral blood sample via venipuncture into an EDTA vacutainer.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 7-8 business days from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Erythropoietin Receptor Gene Mutation Analysis is to detect genetic variations in the EPOR gene that may cause disorders affecting red blood cell production. This test aids in diagnosing hereditary anemia or erythrocytosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.
How to Prepare
- Fast for 4-6 hours if recommended by your doctor
- Bring a valid ID and doctor's prescription
- Inform the collector of any medications or recent transfusions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing hereditary anemia, especially in cases with family history or unexplained symptoms, enabling targeted treatment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect container or labeling
Understanding Your Results
Negative
No mutations detected; normal EPOR gene function.
Positive
Mutation detected; consult a geneticist for further evaluation and management.
Variant of Uncertain Significance
Genetic variant found but clinical significance unknown; follow-up testing may be needed.
Consult a doctor if you experience persistent anemia symptoms, have a family history of genetic blood disorders, or receive a positive test result for personalized treatment options.
Limitations
- ⚠May not detect all rare or novel mutations in the EPOR gene
- ⚠Results require clinical correlation and genetic counseling
- ⚠Test does not assess other causes of anemia
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | Erythropoietin Receptor Gene Mutation Analysis | Complete Blood Count | Hemoglobin Electrophoresis | Iron Studies |
|---|---|---|---|---|
| Comparison | Erythropoietin Receptor Gene Mutation Analysis |
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