HFE Hemochromatosis DNA Test
Find out if you are at increased risk
- A common genetic disorder resulting in excess iron accumulation in the body
- 1 in 9 people of European ancestry carry one of the HFE genetic mutations
- Early diagnosis and treatment is essential to prevent complications
- Serious complications and death can occur if untreated
- Simple mouth swab DNA test with results in 1 – 2 weeks
What is Hemochromatosis DNA Testing?
The gene most commonly associated with hereditary hemochromatosis is the HFE gene. There are three mutations in this gene (C282Y, H63D and S65C) that can increase the risk of hemochromatosis. This hemochromatosis DNA test is able to determine whether an individual has two copies of a mutation (homozygous), one copy of one mutation (heterozygous), one copy each of two different mutations (compound heterozygous) or whether an individual does not carry any of the HFE mutations.
The C282Y (845G>A) mutation carries the highest risk for iron overload when two copies are inherited (homozygous). The other two mutations, H63D (187C>G) and S65C (193A>T) have a lower chance of causing hemochromatosis.
Step-by-Step
The kit can be ordered online, by fax or mail, or by phone. Once you place the order, the testing kit will be shipped directly to you. The kit contains swabs called “buccal swabs”. DNA is collected quickly and easily by rubbing the swabs inside your mouth against the cheek for 30 seconds. Once the DNA is collected, the swabs are placed into the specimen container provided in the kit and returned to the laboratory for testing using the return package included in the testing kit. Once your samples arrive at the laboratory, testing begins immediately and results are available in 1 to 2 weeks.
Symptoms of Hemochromatosis
Early Symptoms
The early symptoms of hemochromatosis vary between individuals and can make diagnosis complicated. The most common early signs are:
Advanced-Stage Symptoms
If hemochromatosis is left untreated, serious health complications can occur:
- Diabetes
- Hypothyroidism
- Infertility
- Impotence
- Hormone imbalances
- Irregular heart rate and heart attacks
- Enlarged heart, liver and spleen
- Liver cirrhosis and cancer
- Abnormal skin color
- Osteoarthritis and osteoporosis
Frequently Asked Questions
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Hereditary Hemochromatosis Learning Center
Appearance of the hemochromatosis mutations in Ireland
Ancient Gaelic history describes the origins of the Irish people as a series of ancient invasions. The two most important migrations in Europe were the Neolithic transition (~3750 BC) and the Bronze Age transition (~2300 [...]
Hemochromatosis diet – are there any diet recommendations for people with Hemochromatosis?
Hemochromatosis is a genetic disorder that increases iron absorption in the body. Excess iron accumulates in the body over time, leading to tissue and organ damage. We are unable to excrete excess iron, hence it [...]
What are the Hemochromatosis risk factors?
Several risk factors are associated with an increased chance of developing hereditary hemochromatosis: Family history An individual’s family history can offer clues about the chances of developing hemochromatosis. People with a parent or sibling who [...]