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Hemochromatosis HFE Full Gene Sequence Analysis Test

DNA Labs India | ISO 9001:2015 Certified

Hemochromatosis HFE Full Gene Sequence Analysis Test

Short Name: HFE Gene Analysis

Also known as: HFE Gene Sequencing, Hemochromatosis Genetic Test

Hemochromatosis HFE Full Gene Sequence Analysis Test test available at DNA Labs India for ₹36,000. Uses Sanger Sequencing on Peripheral blood samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the Hemochromatosis HFE Full Gene Sequence Analysis is to detect mutations in the HFE gene that cause hereditary hemochromatosis. This test helps in confirming diagnosis, assessing risk in family members, guiding treatment decisions, and enabling genetic counseling to manage and prevent iron overload disorders.

Test Code
3026
Price
₹36,000
Sample Type
Peripheral blood
Result Time
4-6 weeks
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

Hemochromatosis HFE Full Gene Sequence Analysis requires a Doctor’s prescription. Prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture from a vein in the arm using standard aseptic techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:Obtain a Doctor’s prescription. Inform the healthcare provider about any medications or recent transfusions.
2
During the Test:Blood sample collection takes a few minutes. Minimal discomfort may be felt during venipuncture.
3
After the Test:Resume normal activities. Monitor the puncture site for any signs of infection or excessive bleeding.

About This Test

Who Should Get This Test

The purpose of the Hemochromatosis HFE Full Gene Sequence Analysis is to detect mutations in the HFE gene that cause hereditary hemochromatosis. This test helps in confirming diagnosis, assessing risk in family members, guiding treatment decisions, and enabling genetic counseling to manage and prevent iron overload disorders.

How to Prepare

  • Ensure proper patient identification
  • Use an EDTA vacutainer (2ml) for sample collection
  • Label the sample correctly with patient details
  • Transport the sample in a cool pack to maintain stability

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"As an OB-GYN, I recommend genetic testing for hemochromatosis in patients with a family history or symptoms, as early intervention can prevent complications like liver disease and improve reproductive health outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Stable at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect container or labeling
  • Sample older than stability period

Understanding Your Results

Results from the HFE Full Gene Sequence Analysis indicate the presence or absence of mutations in the HFE gene. Interpretation should be done by a healthcare professional in conjunction with clinical symptoms and other diagnostic tests.
📊

No mutations detected

Low risk of hereditary hemochromatosis; clinical correlation recommended if symptoms persist

📊

Heterozygous C282Y mutation

Carrier status; may have mild iron overload risk, monitoring advised

📊

Homozygous C282Y mutation

High risk for hemochromatosis; clinical evaluation and treatment like phlebotomy recommended

📊

Other HFE mutations (e.g., H63D, S65C)

Variable risk; genetic counseling and follow-up testing may be needed

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of iron overload, have a family history of hemochromatosis, or if test results indicate mutations. Early consultation can guide management and prevent complications.

Limitations

  • May not detect all rare or novel HFE mutations
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minor bruising at the puncture site
  • Rare risk of infection
  • Fainting or dizziness during blood draw

Interfering Factors

  • Hemolyzed blood sample
  • Contaminated sample
  • Recent blood transfusion

Compare With Similar Tests

TestHemochromatosis HFE Full Gene Sequence AnalysisSerum Ferritin TestTransferrin Saturation TestLiver BiopsyGenetic Counseling
ComparisonHemochromatosis HFE Full Gene Sequence Analysis

Frequently Asked Questions

What is hemochromatosis?
Hemochromatosis is a genetic disorder where the body absorbs too much iron, leading to iron overload and potential organ damage.
What is the HFE gene?
The HFE gene regulates iron absorption in the body. Mutations in this gene are the most common cause of hereditary hemochromatosis.
Why is the HFE Full Gene Sequence Analysis done?
This test is done to confirm a diagnosis of hemochromatosis, screen family members, and guide treatment for iron overload disorders.
How is the test performed?
The test involves drawing a blood sample, which is analyzed using Sanger sequencing to detect mutations in the entire HFE gene.
What is the cost of the test in India?
The cost of Hemochromatosis HFE Full Gene Sequence Analysis at DNA Labs India is INR 36000, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 4-6 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the Hemochromatosis HFE Full Gene Sequence Analysis.
What are the risks of the test?
The risks are minimal and similar to any blood draw, such as bruising or slight discomfort at the puncture site.
Can this test detect all hemochromatosis mutations?
The test covers the full HFE gene sequence, but it may not detect all rare mutations. Genetic counseling is recommended for comprehensive interpretation.
Is the test covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your insurance provider for specific details.
What should I do if my test results are positive?
If results indicate mutations, consult a healthcare provider for further evaluation, potential treatment like phlebotomy, and genetic counseling for family members.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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