Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) Test
Short Name: HFE Gene Mutation Analysis
Also known as: HFE Mutation Analysis, Hereditary Hemochromatosis Gene Test, Iron Overload Genetic Screening, HFE DNA Mutation Test, Hemochromatosis Genetic Panel
Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) Test test available at DNA Labs India for ₹12,000. Uses Sanger Sequencing on Peripheral Blood samples. Results in Results are typically available within 7 to 10 working days from the date of sample collection. Reports can be accessed through the DNA Labs India online portal, received via email, or delivered through WhatsApp.. 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 Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) is to identify genetic mutations in the HFE gene that are responsible for hereditary hemochromatosis. This test helps confirm a diagnosis of hereditary hemochromatosis in individuals with elevated iron markers, enables cascade screening of family members at risk, guides treatment decisions such as the initiation of therapeutic phlebotomy, and assists in differentiating hereditary hemochromatosis from secondary causes of iron overload. Early genetic identification supports preventive healthcare strategies and reduces the risk of life-threatening organ complications.
- Test Code
- 3040
- CPT Code
- 81256
- ICD Code
- E83.110
- Price
- ₹12,000
- Sample Type
- Peripheral Blood
- Result Time
- Results are typically available within 7 to 10 working days from the date of sample collection. Reports can be accessed through the DNA Labs India online portal, received via email, or delivered through WhatsApp.
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
A doctor's prescription may be required. No fasting is necessary for this test. Inform the phlebotomist about any medications, supplements, or recent blood transfusions. Ensure proper identification documents are available.
Method: Venipuncture
Laboratory Analysis
A 2 ml peripheral blood sample will be collected via venipuncture into an EDTA vacutainer. The procedure typically takes less than 5 minutes. The sample will be stored in a cool pack for transport to the laboratory.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or bandage. You may resume normal activities immediately. Mild bruising at the collection site is normal and resolves within a few days. Results will be available in 7 to 10 working days.
Timeline: Results are typically available within 7 to 10 working days from the date of sample collection. Reports can be accessed through the DNA Labs India online portal, received via email, or delivered through WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) is to identify genetic mutations in the HFE gene that are responsible for hereditary hemochromatosis. This test helps confirm a diagnosis of hereditary hemochromatosis in individuals with elevated iron markers, enables cascade screening of family members at risk, guides treatment decisions such as the initiation of therapeutic phlebotomy, and assists in differentiating hereditary hemochromatosis from secondary causes of iron overload. Early genetic identification supports preventive healthcare strategies and reduces the risk of life-threatening organ complications.
How to Prepare
- Collect 2 ml of peripheral blood in an EDTA (lavender-top) vacutainer
- Label the sample correctly with patient name, date of birth, and unique ID
- Gently invert the tube 8-10 times to mix blood with anticoagulant
- Store the sample at 2-8°C and transport with a cool pack
- Avoid hemolysis during collection by using appropriate needle gauge
- Ensure the sample reaches the laboratory within 72 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an internal medicine physician, I frequently encounter patients with unexplained fatigue, joint pain, and elevated liver enzymes that are ultimately diagnosed as hereditary hemochromatosis. The HFE gene mutation analysis is a critical diagnostic tool that helps confirm the genetic basis of iron overload. Early identification of C282Y, H63D, and S61C mutations allows us to initiate preventive measures such as regular therapeutic phlebotomy and dietary modifications before irreversible organ damage occurs. I recommend this test for any patient with elevated serum ferritin or transferrin saturation, particularly those with a family history of iron overload disorders. Genetic confirmation also enables cascade screening of at-risk family members, which is essential for early intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (less than 1 ml)
- Hemolyzed, clotted, or contaminated sample
- Improperly labeled or unlabeled sample
- Sample not stored at recommended temperature (2-8°C)
- Sample received more than 72 hours after collection
Understanding Your Results
C282Y Homozygous (C282Y/C282Y)
Highest risk for developing hereditary hemochromatosis. Approximately 80-90% of individuals with this genotype develop iron overload. Clinical evaluation, iron studies, and liver assessment are strongly recommended.
C282Y/H63D Compound Heterozygous
Increased risk for iron overload. A significant proportion of individuals with this genotype may develop clinical hemochromatosis. Monitoring of iron levels and clinical follow-up is advised.
H63D Homozygous (H63D/H63D)
Mild to moderate risk. Some individuals may develop mild iron elevation, often in combination with other risk factors such as alcohol use, metabolic syndrome, or hepatitis C.
H63D Heterozygous (Wild Type/H63D)
Carrier status. Generally low risk for developing hemochromatosis. May contribute to mildly elevated iron levels in combination with other factors.
S61C Mutation (Heterozygous or Homozygous)
Variable risk depending on zygosity and compound heterozygosity with other HFE mutations. S61C in combination with C282Y may increase iron overload risk.
Wild Type (No Mutations Detected)
No HFE gene mutations identified. Hereditary hemochromatosis due to HFE mutations is unlikely. If iron overload is clinically suspected, other genetic or secondary causes should be investigated.
Consult your physician if your test results show any HFE gene mutations, especially if you have elevated serum ferritin or transferrin saturation levels. Immediate consultation is recommended if you experience symptoms such as persistent fatigue, joint pain, abdominal pain, unexplained weight loss, or skin darkening. Early medical intervention can prevent irreversible organ damage.
Limitations
- ⚠This test detects only three common HFE gene mutations (H63D, S61C, C282Y) and may not identify rare or novel pathogenic variants
- ⚠A negative result does not completely exclude hereditary hemochromatosis, as other non-HFE genetic causes exist
- ⚠Genetic results should always be interpreted in conjunction with clinical findings and biochemical iron studies
- ⚠This test does not assess the degree of organ damage or current iron burden
- ⚠Carrier status does not necessarily predict disease manifestation
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Rare risk of infection at the blood collection site
- ●Fainting or lightheadedness during or after blood draw
- ●Very rare risk of excessive bleeding in individuals with bleeding disorders
Interfering Factors
- ●Recent blood transfusion within the past 4 months may affect clinical interpretation of iron status
- ●Contaminated or improperly stored sample may compromise DNA extraction quality
- ●Concurrent iron supplementation may mask or alter associated iron markers
- ●Hemolyzed samples may reduce DNA yield and affect sequencing quality
Compare With Similar Tests
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Frequently Asked Questions
What is hereditary hemochromatosis?
What is the HFE gene and why is it important?
Who should get the HFE gene mutation analysis?
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Is fasting required for this test?
How long does it take to receive the test results?
Can hemochromatosis be treated after detection?
Is this genetic test covered under government health schemes like PMJAY or CGHS?
What is the cost of the HFE gene mutation test at DNA Labs India?
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