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
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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.


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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.

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Symptoms of Hemochromatosis

Early Symptoms

The early symptoms of hemochromatosis vary between individuals and can make diagnosis complicated. The most common early signs are:

  • Fatigue
  • Joint pain
  • Pain in the knuckles of the pointer and middle finger known as “Iron fist”
  • Lack of energy
  • Abdominal pain
  • Memory problems
  • Depression
  • Decreased sex drive
  • Shortness of breath
  • Heart flutters

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

Avada Admin

The Disease

If my parents or grandparents have hemochromatosis, am I at increased risk? How common is hemochromatosis? How is hemochromatosis treated?

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Avada Admin

The Test

What is the HFE gene? What are my risks of developing hemochromatosis if I have one of the mutations in the HFE gene?

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The Results

How will I receive my results? How long will testing take? What are the possible results and what are the interpretations for each result type?

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Get Started


Are you ready to get started? Print out this form and take it to your next doctor’s appointment to initiate a conversation with your doctor about Horizon carrier screening.

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Hereditary Hemochromatosis Learning Center

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 [...]

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