Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C, C282Y)
Understanding Hereditary Hemochromatosis
Hereditary hemochromatosis is a genetic disorder characterized by excessive iron absorption from the diet, leading to iron overload in various organs and tissues. This condition affects approximately 1 in 200-300 individuals of Northern European descent and can cause serious health complications if left untreated. The Hemochromatosis Common Mutation Analysis in HFE Gene test provides crucial genetic information to identify individuals at risk for developing this condition.
What This Test Detects
This comprehensive genetic analysis specifically targets three critical mutations in the HFE gene:
- H63D Mutation: A common variant associated with mild to moderate iron overload
- S61C Mutation: A less common but significant mutation affecting iron regulation
- C282Y Mutation: The most prevalent and clinically significant mutation in hereditary hemochromatosis
How the Test Works
Using advanced Sanger Sequencing technology, our laboratory analyzes your DNA sample to detect these specific mutations. The test examines the HFE gene, which plays a crucial role in regulating iron absorption in the small intestine. When mutations occur in this gene, the body’s iron regulation system malfunctions, leading to progressive iron accumulation.
Who Should Consider This Test?
Clinical Indications and Symptoms
Consider genetic testing for hemochromatosis if you experience:
- Unexplained fatigue and weakness
- Joint pain and arthritis-like symptoms
- Abdominal pain and liver function abnormalities
- Bronze or gray skin discoloration
- Heart palpitations or irregular heartbeat
- Diabetes mellitus developing in adulthood
- Loss of libido or impotence in men
- Irregular menstrual periods in women
Risk Factors
- Family history of hemochromatosis or iron overload
- Northern European ancestry
- Elevated serum iron or ferritin levels
- Unexplained liver disease
- Early-onset heart disease
Benefits of Genetic Testing
Early Detection and Prevention
Genetic testing for hemochromatosis offers numerous advantages:
- Early Intervention: Identify at-risk individuals before organ damage occurs
- Family Screening: Enable testing for relatives of affected individuals
- Personalized Treatment: Guide appropriate management strategies
- Prevention of Complications: Reduce risk of liver cirrhosis, diabetes, and heart disease
- Reproductive Planning: Inform family planning decisions
Understanding Your Test Results
Possible Genetic Outcomes
Your test results will fall into one of several categories:
Normal Results
No mutations detected in the HFE gene. This significantly reduces your risk for hereditary hemochromatosis, though other forms of iron overload may still be possible.
Heterozygous Carrier
One copy of a mutated gene detected. You may have slightly increased iron absorption but typically won’t develop clinical hemochromatosis unless other risk factors are present.
Homozygous Affected
Two copies of the same mutation detected (most commonly C282Y/C282Y). This indicates high risk for developing clinical hemochromatosis and requires regular monitoring and potential treatment.
Compound Heterozygous
Different mutations on each copy of the HFE gene (typically C282Y/H63D). This combination carries moderate to high risk for iron overload and requires clinical follow-up.
Next Steps After Testing
Based on your results, your healthcare provider will recommend appropriate follow-up, which may include:
- Regular monitoring of iron studies
- Therapeutic phlebotomy if iron overload is present
- Dietary modifications
- Family member screening
- Regular liver function monitoring
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C, C282Y) |
| Regular Price | $400 USD |
| Discount Price | $300 USD |
| Turnaround Time | 7-10 days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | Sanger Sequencing |
Pre-Test Instructions
The Hemochromatosis Common Mutation Analysis in HFE Gene requires a Doctor’s prescription for most cases. However, prescription requirements do not apply for:
- Surgical preparation cases
- Pregnancy-related testing
- Individuals planning international travel
Nationwide Testing Availability
We have diagnostic centers conveniently located throughout the United States, serving major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas locations
- Phoenix and Arizona facilities
- And many additional locations nationwide
Take Control of Your Genetic Health
Early detection of hereditary hemochromatosis can prevent serious complications and improve long-term health outcomes. Our comprehensive genetic testing provides the information you need to make informed decisions about your health management.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic counselors are available to answer your questions and guide you through the testing process.
Don’t wait until symptoms develop – proactive genetic screening offers the best opportunity for early intervention and prevention of iron overload complications.
