Clinic appointment
Haemochromatosis Gene Test
A genetic test for the two common HFE gene variants, C282Y and H63D, associated with hereditary haemochromatosis, a condition where the body absorbs too much iron.
- Doctor-reviewed results
- Laboratory analysis
- 2 to 3 working days from lab receipt
- No fasting required
What’s included
1 marker measured
HFE gene (haemochromatosis)
Looks for faults in the HFE gene, which cause most cases of haemochromatosis, a condition where iron from food builds up in the body over time. One faulty copy makes you a carrier. Two faulty copies put you at risk, though most people with two copies never develop the condition.
Overview
Hereditary haemochromatosis most often affects people of white northern European background, and is particularly common in people with Celtic ancestry. It makes the body absorb too much iron. Found early, it is usually straightforward to manage. Left untreated, the extra iron can damage the liver, joints, pancreas and heart. This test looks for the two HFE gene variants behind most cases. It is a common next step when ferritin or transferrin saturation is high, or when a close relative has been diagnosed.
It can show whether high iron or ferritin results have an inherited explanation, which changes how a clinician monitors someone and prompts testing of relatives. It does not measure iron levels and does not tell anyone whether iron has already built up in their organs.
Who this is for and who it isn’t
Who it’s for
- Adults aged 18 and over
- Anyone with a raised ferritin or transferrin saturation
- People with a relative diagnosed with haemochromatosis
Who it isn’t for
- It does not measure iron and does not show whether iron has already built up. Carrying two copies raises risk but does not mean iron will accumulate; a doctor reads it with your ferritin and transferrin saturation. A family result is worth discussing before testing relatives.
- Anyone with a new, severe or worsening symptom: contact your GP or call NHS 111. A test you buy today is not a substitute for being examined.
Common reasons people choose this test
- A high ferritin or transferrin saturation result
- A parent, sibling or child with haemochromatosis
- Joint pain in the knuckles, tiredness or low libido
- Irish, Scottish or Northern European ancestry with unexplained iron results
These are reasons people choose to test, not signs that something is wrong. A result is one part of a picture your doctor puts together with your history and an examination.
What your result looks like
Every result is shown with the unit and the reference range exactly as the laboratory reported it, with the doctor’s note underneath.
- HFE gene (haemochromatosis)Detected
- Result
- C282Y carrier (one copy)
- Range
- No variant detected
| Marker | Result | Units | Range | Flag |
|---|---|---|---|---|
| HFE gene (haemochromatosis) | C282Y carrier (one copy) | n/a | No variant detected | Detected |
Doctor’s note (example)
One copy of C282Y makes you a carrier. Iron overload is unlikely; a clinician may suggest ferritin and transferrin saturation every few years, and first-degree relatives may wish to be tested.
Values above are examples. Your report shows your own results with the laboratory’s units and reference range for your age and sex, reviewed, signed and released by a GMC-registered doctor.
How it works
- You book your appointmentA trained clinician takes your sample at one of our London clinics. Nothing to do at home.
- The clinician takes your sampleA single clinic blood draw by a trained clinician
- The laboratory analyses itYour sample is processed for the measurements included in this test. Lab processing typically takes 2 to 3 working days from receipt of your sample.
- A doctor reviews and releases itA GMC-registered doctor reads every result and signs the report before it reaches you.
- Sample
- Clinic blood draw
- Preparation
- No fasting required
- Who it's for
- Any sex · ages 18+
How to prepare
What we can and can’t tell you
This test looks only at the two common HFE variants and does not detect rarer HFE variants or iron overload with other causes, so a negative result does not exclude haemochromatosis. Carrying the variants does not mean a person has or will develop iron overload: only a minority of people with two copies go on to have problems from too much iron. Conversely, a positive genotype says nothing about how much iron has already accumulated, which needs ferritin and transferrin saturation, and sometimes imaging, to assess. It does not diagnose organ damage and does not on its own decide whether treatment to remove blood (venesection) is needed. Results have implications for blood relatives who have not consented to testing.
The reference range beside each result is the laboratory’s own. A result in range is not a clean bill of health and a result outside it is not a diagnosis. Most ranges cover about 95% of healthy people, so about 1 in 20 healthy people fall just outside any one range. No test result replaces an examination or your own doctor’s judgement, and none of these panels is a cancer screening programme.
Read the full note
A genetic test is not reported against a normal range. It looks only for the specific variants this test covers, so a not-found result does not exclude a condition with another genetic or non-genetic cause, and a found result shows an inherited tendency, not a diagnosis. Your genes do not change, so there is no need to repeat it, but it also says nothing about how your body is working today.
A genetic result can carry information about blood relatives who have not asked to be tested, and it is not something you can un-know. If you have symptoms that are new, severe or getting worse, contact your GP or NHS 111 rather than waiting for a result.
Frequently asked questions
What do the variants mean?
Having two copies of C282Y carries the highest risk. One C282Y and one H63D carries a smaller risk. Two copies of H63D, or one copy of either variant, rarely cause iron overload.
What happens if a variant is found?
The reviewing doctor explains what your result means and whether you should see your GP, who can check your iron levels and arrange specialist care if it is needed. If treatment is needed, it is usually regular removal of some blood, called venesection, which works well when started early.
How long do results take?
The laboratory typically takes 2 to 3 working days from receiving your sample. This does not include kit delivery, sample collection or return postage. A doctor reviews your results before they are released.
Can I choose a home kit or a clinic?
This test is a clinic blood draw, as it needs a venous sample for accuracy. We arrange a convenient appointment for you.
Is a doctor involved?
Yes. Every result is reviewed by a GMC-registered doctor who signs it off and explains what it means and what to do next.
Is it confidential?
Your results are available through your secure patient portal. Our privacy policy explains how your information is handled and when it may be shared to provide your care.
What happens to my sample and results?
Your sample is analysed at a UKAS-accredited laboratory (ISO 15189). A GMC-registered doctor then reads every result and signs the report before it is released to your secure portal, so nothing reaches you unreviewed. The report says whether each genetic variant tested for was found or not found, and the doctor's note explains what that means for you, what it does not mean, and what usually happens next, which is most often a conversation with your own GP. Because a genetic result can also matter to blood relatives, the note says when that applies.
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