Hemochromatosis Detection HFE Genotyping Test
Understanding Hereditary Hemochromatosis
Hereditary hemochromatosis is a genetic disorder characterized by excessive iron absorption from the diet, leading to iron accumulation in vital organs such as the liver, heart, and pancreas. This condition affects approximately 1 in 200-300 individuals of Northern European descent and represents one of the most common genetic disorders in the United States. The Hemochromatosis Detection HFE Genotyping Test provides a definitive genetic diagnosis by analyzing specific mutations in the HFE gene that regulate iron metabolism.
What Does This Test Measure?
This advanced genetic test specifically targets three critical mutations in the HFE gene:
- C282Y Mutation: The most common and severe mutation associated with hereditary hemochromatosis
- H63D Mutation: A milder mutation that may contribute to iron overload when combined with other factors
- S65D Mutation: A rare variant that can influence iron absorption patterns
The test utilizes Real-Time PCR technology, providing highly accurate and reliable results for genetic counseling and clinical management decisions.
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
- Diabetes mellitus with no clear cause
- Heart rhythm abnormalities or cardiomyopathy
- Elevated liver enzymes or iron studies
- Family history of hemochromatosis or iron overload disorders
Benefits of Early Detection
Early identification of hereditary hemochromatosis through genetic testing offers numerous advantages:
- Prevent Organ Damage: Early intervention can prevent irreversible liver cirrhosis and liver cancer
- Manage Diabetes Risk: Timely treatment reduces the risk of diabetes development
- Cardiac Protection: Prevents iron-induced heart muscle damage and arrhythmias
- Family Screening: Enables testing of at-risk family members before symptoms appear
- Personalized Treatment: Guides appropriate therapeutic phlebotomy schedules
- Improved Quality of Life: Early management prevents debilitating symptoms
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Homozygous C282Y: Highest risk for developing clinical hemochromatosis; requires regular monitoring and treatment
- Compound Heterozygous (C282Y/H63D): Moderate risk; may develop iron overload with additional factors
- Heterozygous C282Y or H63D: Carrier status; typically does not cause significant iron overload alone
- Normal Genotype: No detected HFE mutations; low probability of hereditary hemochromatosis
All results should be discussed with your healthcare provider, preferably a hematologist or genetic counselor, who can provide personalized recommendations based on your genetic profile, iron studies, and clinical presentation.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $176 |
| Regular Price | $250 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art molecular diagnostics laboratories ensure accurate and timely results with a standard turnaround time of 3-5 business days.
Sample Requirements and Processing
Sample Type: 3 mL (2 mL minimum) whole blood in 1 Lavender Top (EDTA) tube
Shipping Instructions: Ship refrigerated. DO NOT FREEZE
Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
Testing Schedule: Samples accepted Monday and Thursday by 9:00 AM
Report Availability: Results delivered Wednesday and Saturday
Take Control of Your Genetic Health
Don’t wait for symptoms to develop. Early detection of hereditary hemochromatosis can prevent serious health complications and improve long-term outcomes. Our specialized team of genetic counselors and hematology experts are available to guide you through the testing process and help interpret your results.
Ready to schedule your Hemochromatosis Detection HFE Genotyping Test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk for iron overload disorders and protecting your future health.
