Hemochromatosis HFE Full Gene Sequence Analysis Test
About Hemochromatosis HFE Full Gene Sequence Analysis Test
| Field | Value |
|---|---|
| Also Known As | HFE Gene Sequencing Test, Hemochromatosis Gene Analysis Test, HFE Full Gene Analysis Test, Hereditary Hemochromatosis Genetic Test |
| Sample Type | Whole Blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 25 Days |
| Recommended For | Adults of any gender, particularly those with Northern European ancestry or a family history of hereditary hemochromatosis |
| Price | Starting at ₹30,000 |
What is a Hemochromatosis HFE Full Gene Sequence Analysis Test?
The Hemochromatosis HFE Full Gene Sequence Analysis test is a genetic test that examines the entire HFE gene to identify mutations linked to hereditary hemochromatosis, a condition in which the body absorbs too much iron.
Also known as the HFE Gene Sequencing test and the Hemochromatosis Gene Analysis test, it uses next-generation sequencing (NGS) to detect all variants across the gene. A small blood sample is collected and sent to the laboratory for DNA analysis.
What Does a Hemochromatosis HFE Full Gene Sequence Analysis Test Measure?
This test analyses the full sequence of the HFE gene, looking for specific mutations that raise the risk of iron overload. The three key variants detected are listed below.
| Mutation | Description |
|---|---|
| C282Y (Cys282Tyr) | The most common disease-causing variant |
| H63D (His63Asp) | A second common point mutation in the HFE gene associated with the condition |
| S65C (Ser65Cys) | A rarer variant with very low penetrance; generally not linked to significant iron overload |
Beyond these three, full gene sequencing also detects other variants classified as benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic.
Why is a Hemochromatosis HFE Full Gene Sequence Analysis Test Done?
A doctor may order this test for several reasons, from confirming a clinical suspicion to screening close relatives of an affected individual.
Common Symptoms That May Require This Test
Your doctor may recommend the Hemochromatosis HFE Full Gene Sequence Analysis test if you experience any of the following symptoms:
- Persistent and unexplained fatigue
- Joint pain, particularly in the hands or knees
- Abdominal pain or discomfort
- Unexplained weight loss
- Loss of sex drive or hormonal changes
Conditions This Test Can Help Detect
This test can help identify or confirm the following conditions:
- Hereditary hemochromatosis, a genetic disorder causing excess iron absorption and storage in organs such as the liver, heart, pancreas, and joints
- Iron overload leading to liver disease (cirrhosis) or liver cancer
- Iron overload-related diabetes, arthritis, or heart abnormalities
- Skin discolouration caused by iron deposits in the skin
How to Prepare and What to Expect
No special preparation is needed before this test. The following information will help you feel ready and confident on the day of collection.
Do You Need to Fast?
No, fasting is not required. You can eat and drink normally before the Hemochromatosis HFE Full Gene Sequence Analysis test procedure. There are no dietary restrictions before sample collection.
Practical Tips Before Your Test
Keep the following in mind before your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history
- Inform your doctor of any medications or supplements you are currently taking, as some may occasionally affect genetic testing
- Wear clothing with sleeves that can be rolled up easily for a comfortable blood draw
- Stay well hydrated before your appointment
Step-by-Step Procedure
Here is what happens during sample collection for this test:
- A trained phlebotomist cleans the skin on the inner arm with an antiseptic solution
- A small blood sample (2 ml) is drawn from a vein using a sterile needle into a lavender-top EDTA tube
- The sample is labelled with your name, patient ID, and the date of collection
- The sample is stored at refrigerator temperature (2 to 8°C) and dispatched to the laboratory promptly
- At the laboratory, DNA is extracted from your blood and the entire HFE gene is sequenced using NGS technology
- Results are reviewed by qualified scientists and your report is issued within 25 days
Factors That Can Affect Accuracy
Certain factors may influence the reliability of genetic test results:
- Recent blood transfusions or bone marrow transplantation can affect DNA analysis
- Poor DNA quality or the presence of PCR inhibitors in the sample
- Mislabelled samples or errors in patient identification
- Rare genetic variants that are not yet characterised in existing databases
- Somatic mosaicism, where cells carry different genetic profiles within the same individual
Understanding Your Hemochromatosis HFE Full Gene Sequence Analysis Test Results
Unlike routine blood tests, this test detects the presence or absence of gene mutations rather than measuring a numerical value. The table below explains common result categories.
| Genotype | Interpretation | Risk Level |
|---|---|---|
| No mutation detected | Wild-type / Normal | Low genetic risk for HFE-related hemochromatosis |
| Heterozygous (one mutation) | Carrier status | Low risk of developing the condition; can pass mutation to children |
| Compound heterozygous (C282Y/H63D) | Increased risk genotype | Elevated risk of iron overload; monitoring recommended |
| Homozygous C282Y (C282Y/C282Y) | Highest-risk genotype | Greatest likelihood of iron loading and organ involvement |
| Homozygous H63D (H63D/H63D) | Low risk | Rarely causes overt hemochromatosis; may cause mild iron accumulation |
Disclaimer: This information serves as a general guide. Your doctor will review your genetic variants alongside your age, health history, serum ferritin levels, and other clinical findings. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain factors can influence when and how symptoms appear, even when a mutation is present:
- In men, clinical symptoms of HFE hemochromatosis typically appear between the ages of 40 and 60; in women, symptoms tend to emerge after menopause due to iron loss through menstruation and pregnancy
- Lifestyle factors such as dietary iron intake, alcohol use, and vitamin C consumption may affect the severity of iron accumulation over time
- A positive genetic result does not guarantee that hemochromatosis will develop, as the condition has low penetrance for reasons that are not fully understood
Managing Your Iron Overload Risk
These general wellness tips may help manage iron levels, particularly for those with identified HFE mutations.
- Avoid iron supplements and reduce alcohol intake, as both can worsen iron loading in susceptible individuals
- Eat a balanced diet and discuss your dietary iron intake with your doctor or a registered dietitian
- If carrier status is confirmed, consider genetic counselling to understand the implications for family members and family planning
Lupin Diagnostics Hemochromatosis HFE Full Gene Sequence Analysis Test Price and Home Collection
The Hemochromatosis HFE Full Gene Sequence Analysis test is available at Lupin Diagnostics starting at ₹30,000, with home sample collection available for your convenience. The table below shows indicative prices across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 30000 |
| CHENNAI | 30000 |
| HYDERABAD | 30000 |
| KOLKATA | 30000 |
| NAVI MUMBAI | 30000 |
| PUNE | 30000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your Hemochromatosis HFE Full Gene Sequence Analysis test online is straightforward:
- Select the test on the Lupin Diagnostics website
- Choose your city and preferred time slot
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre
- Receive your report via email or WhatsApp within the stipulated turnaround time
Home Collection
Home collection for the Hemochromatosis HFE Full Gene Sequence Analysis test is available across cities in India. A certified phlebotomist visits your location, collects the blood sample, and ensures it is transported correctly to the laboratory. All samples are processed in NABL-accredited laboratories, and your digital report is accessible via email or WhatsApp once ready.
Frequently Asked Questions
The HFE gene plays a key role in regulating how much iron the body absorbs from food. Mutations in this gene can cause the body to absorb excess iron, which builds up in organs over time. Testing this gene helps identify whether you carry variants that raise your risk of hereditary hemochromatosis.
This test is recommended for adults with a family history of hereditary hemochromatosis, first-degree relatives of a confirmed case, and individuals with unexplained symptoms such as fatigue, joint pain, or elevated iron markers on routine blood tests.
No, fasting is not required. You can eat and drink as usual before the test. The only preparation needed is to bring a detailed clinical history on the day of collection.
Results for the Hemochromatosis HFE Full Gene Sequence Analysis test are typically available within 25 days. This extended turnaround reflects the complexity of full gene sequencing using NGS technology.
Not necessarily. Inheriting two copies of a faulty HFE gene does not guarantee that hemochromatosis will develop. The condition has low penetrance, meaning only a small proportion of people with high-risk genotypes develop clinically significant iron overload. Your doctor will assess your overall risk using iron studies and clinical findings.
Yes, the Hemochromatosis HFE Full Gene Sequence Analysis test home collection is available. A trained phlebotomist visits your location, collects the blood sample, and ensures it reaches the laboratory under the correct conditions. Results are shared digitally once ready.
A positive result means one or more HFE gene mutations were detected. You should consult a hematologist or a genetic counsellor for further guidance. Additional tests such as serum ferritin and transferrin saturation will help assess your actual iron levels and guide any next steps.
Hemochromatosis HFE Full Gene Sequence Analysis Test
