Hemochromatosis Detection HFE Genotyping Test
Short Name: HFE Genotyping Test
Also known as: HFE Mutation Test, Hereditary Hemochromatosis Genetic Test
Hemochromatosis Detection HFE Genotyping Test test available at DNA Labs India for ₹7,000. Uses Real Time PCR on Whole blood samples. Results in Reports are typically available within 2-3 working days after sample receipt, with delivery on Wed/Sat for samples received Mon/Thu by 9 am.. 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 Hemochromatosis Detection HFE Genotyping Test is to detect mutations in the HFE gene—specifically H63D, S65D, and C282Y—which are linked to hereditary hemochromatosis. This genetic test helps in risk assessment, early diagnosis, and guiding clinical management to prevent organ damage from iron overload.
- Test Code
- 699
- Price
- ₹7,000
- Sample Type
- Whole blood
- Result Time
- Reports are typically available within 2-3 working days after sample receipt, with delivery on Wed/Sat for samples received Mon/Thu by 9 am.
- Fasting Required
- No
- Method
- Real Time PCR
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and submitted with the sample.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture from a vein in the arm using standard aseptic techniques.
Report Delivery
The blood sample will be processed for DNA extraction and analyzed using Real Time PCR to detect HFE gene mutations.
Timeline: Reports are typically available within 2-3 working days after sample receipt, with delivery on Wed/Sat for samples received Mon/Thu by 9 am.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Hemochromatosis Detection HFE Genotyping Test is to detect mutations in the HFE gene—specifically H63D, S65D, and C282Y—which are linked to hereditary hemochromatosis. This genetic test helps in risk assessment, early diagnosis, and guiding clinical management to prevent organ damage from iron overload.
How to Prepare
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Collect 3 mL whole blood in a Lavender Top (EDTA) tube
- Ship the sample refrigerated; do not freeze
- Avoid hemolyzed or clotted samples
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early detection and management of hereditary hemochromatosis, preventing organ damage through timely intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample frozen
- Incorrect container type (not EDTA tube)
- Insufficient sample volume (less than 2 mL)
- Missing or incomplete Form 20
- Hemolyzed or clotted sample
Understanding Your Results
Negative for all mutations (H63D, S65D, C282Y)
Low genetic risk for hereditary hemochromatosis. Clinical correlation with symptoms and other tests is advised for comprehensive assessment.
Positive for one or more mutations
Increased genetic risk for hemochromatosis. Recommend further evaluation, including iron studies and consultation with a hematologist or genetic counselor for management and family screening.
If the test results are positive for any mutation, or if symptoms such as fatigue, joint pain, or organ dysfunction persist, consult a hematologist, geneticist, or healthcare provider for personalized advice and management.
Limitations
- ⚠May not detect all rare HFE gene variants
- ⚠Does not replace clinical diagnosis or other iron studies
- ⚠Results require interpretation by a healthcare professional and genetic counseling
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection or fainting during blood draw
Interfering Factors
- ●Sample contamination or degradation
- ●Improper sample storage (e.g., freezing)
- ●Recent blood transfusions may affect DNA quality
Compare With Similar Tests
| Test | Hemochromatosis Detection HFE Genotyping Test | Serum Ferritin Test | Transferrin Saturation Test | Liver Function Test |
|---|---|---|---|---|
| Comparison | Hemochromatosis Detection HFE Genotyping Test |
Frequently Asked Questions
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