HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D
Private HFE gene test in London for £369, detecting C282Y and H63D variants associated with hereditary haemochromatosis.
Turnaround time
5 business days
Biomarkers count
1
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Overview of the HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D Test
The HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D test is a targeted genetic blood test that looks for two common HFE gene variants associated with hereditary haemochromatosis.
The test contains 1 specialist genetic biomarker group: HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D.
Hereditary haemochromatosis is an inherited condition in which the body can absorb more Iron from food than it needs.
Over many years, excessive Iron can accumulate in organs and tissues, particularly the liver, joints, pancreas, heart and endocrine system.
The two variants assessed by this test are C282Y and H63D.
C282Y is the HFE variant most strongly associated with clinically significant hereditary haemochromatosis, particularly when two C282Y copies are inherited.
H63D is also common, but its clinical effect is generally much weaker. Many people carrying H63D do not develop clinically important Iron overload.
Some people inherit one C282Y variant and one H63D variant, known as compound heterozygosity. This can increase susceptibility to Iron accumulation compared with having neither variant, although the risk of substantial clinical disease is considerably lower than in many people with C282Y homozygosity.
Importantly, a genetic predisposition is not the same as established Iron overload.
A person can carry an HFE variant without developing elevated Ferritin, increased Transferrin Saturation or organ damage.
Conversely, high Ferritin can occur for many reasons unrelated to hereditary haemochromatosis, including inflammation, infection, metabolic liver disease, alcohol-related liver injury and other medical conditions.
For this reason, HFE genetic testing is most informative when interpreted alongside Ferritin, Serum Iron, Transferrin and Transferrin Saturation.
Because DNA does not change over time, this is normally a once-in-a-lifetime genetic test.
What Does the HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D Test Check?
The test identifies two common inherited HFE variants associated with susceptibility to hereditary Iron overload. This test measures 1 specialist genetic biomarker group.
HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D
Detects the C282Y and H63D HFE variants associated with hereditary haemochromatosis and helps determine whether an inherited predisposition to Iron overload is present.
Who May Benefit From the HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D Test?
HFE testing may be particularly useful when Iron studies suggest unexplained Iron accumulation or where hereditary haemochromatosis is already known within the family.
People with persistently raised Transferrin Saturation - Increased Transferrin Saturation can be an early biochemical indication of excessive Iron absorption.
People with unexplained high Ferritin alongside raised Iron saturation - Genetic testing can help determine whether hereditary haemochromatosis is contributing.
People with a first-degree relative diagnosed with HFE haemochromatosis - Close relatives may carry the same inherited variants.
People with unexplained liver abnormalities and biochemical Iron overload - Iron accumulation can affect the liver over time.
People with previous abnormal Iron studies that remain unexplained - HFE analysis can help distinguish a genetic predisposition from secondary causes of raised Ferritin.
People with joint symptoms and confirmed biochemical Iron overload - Haemochromatosis can affect selected joints, although joint symptoms alone are not a reason to assume Iron overload.
People with a previous genetic result requiring confirmation or documentation - A targeted HFE result can establish the C282Y and H63D genotype.
People undergoing specialist family-risk assessment - Genetic information can help guide appropriate biochemical testing of adult relatives.
How to Prepare
There is no need to alter diet or supplements simply to influence the genetic result because C282Y and H63D are inherited DNA variants.
If Iron overload is being investigated at the same time, follow the preparation requirements for the accompanying Iron studies.
Symptoms and Reasons to Consider the HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D Test
Hereditary haemochromatosis can remain asymptomatic for many years, and symptoms are often non-specific even when Iron accumulation has developed.
Persistent unexplained fatigue - Iron overload is one possible cause, although fatigue has many more common explanations.
Joint pain, particularly involving the hands - Haemochromatosis can produce characteristic arthropathy in some affected individuals.
Unexplained liver-enzyme abnormalities - Chronic Iron accumulation can contribute to liver injury.
Unexplained high Ferritin and Transferrin Saturation - This laboratory pattern is a particularly important reason to consider HFE testing.
Loss of libido or endocrine changes alongside Iron overload - Significant Iron deposition can affect endocrine organs.
Unexplained abnormal glucose regulation in the context of Iron overload - Pancreatic Iron deposition can occur in advanced disease.
A family history of hereditary haemochromatosis - Genetic testing may be appropriate even before symptoms develop.
Previously identified C282Y or H63D in a close relative - Targeted family assessment can clarify inherited risk.
Symptoms alone cannot diagnose hereditary haemochromatosis.
Likewise, an elevated Ferritin result should not automatically be attributed to Iron overload because Ferritin is also an inflammatory and liver-related marker.
How to Book Your HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D Test
The HFE genetic test can be booked privately when hereditary haemochromatosis or inherited susceptibility to Iron overload requires investigation.
Choose the HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D
Select the targeted hereditary haemochromatosis genetic test online.
Select your sample collection option
Choose an in-clinic blood draw or professional home or hotel phlebotomy where suitable.
Attend your appointment
A trained healthcare professional collects the required venous blood specimen for genetic analysis.
Laboratory analysis
DNA is analysed for the C282Y and H63D HFE variants.
Receive your results securely
Your authorised genetic report is delivered securely and can be interpreted alongside Iron studies and family history.
When Will I Receive My Results?
The expected turnaround for the HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D test is approximately 5 days after the sample reaches the laboratory.
Genetic analysis requires DNA processing and targeted assessment of the specified HFE variants.
The laboratory completes analytical checks and result authorisation before releasing the report.
Turnaround begins from laboratory receipt rather than necessarily from the exact time your blood is collected.
Occasional technical repeat analysis can extend the reporting period.
Because the result is genetic and does not change over time, repeat testing is generally unnecessary once a reliable genotype has been established.
Understanding Your Results
The report indicates whether the C282Y and H63D HFE variants are present and whether they have been detected on one or both inherited copies of the gene.
No detected C282Y or H63D variants makes common HFE-related hereditary haemochromatosis less likely, although it does not exclude every rare genetic cause of Iron overload.
A single C282Y or H63D variant generally indicates carrier status.
Carriers usually do not develop classical severe HFE haemochromatosis, although Iron studies should still be interpreted individually.
Two C282Y variants are associated with the highest risk of classical HFE hereditary haemochromatosis among the genotypes included in this test.
Even then, genetic penetrance is incomplete: not everyone with the genotype develops clinically significant Iron overload.
One C282Y and one H63D variant represents compound heterozygosity. Some individuals can develop increased Iron indices, although severe Iron overload is much less predictable.
The genetic result should therefore always be interpreted alongside Ferritin and Transferrin Saturation rather than treated as proof of current organ Iron accumulation.
Why Book With London Blood Tests?
London Blood Tests provides targeted private HFE genetic testing together with flexible professional blood collection.
Tests two common HFE variants - C282Y and H63D are analysed within one targeted genetic test.
Useful after abnormal Iron studies - Can help establish whether hereditary susceptibility contributes to biochemical Iron overload.
Relevant to family screening - Genetic results can clarify inherited risk in appropriate adult relatives.
Once-in-a-lifetime result - DNA-based HFE status does not change with diet, medication or age.
Complements Ferritin and Iron studies - Genetic predisposition and current Iron loading answer different clinical questions.
Specialist genetic laboratory analysis - Samples undergo dedicated molecular testing.
Secure reporting - Genetic results are delivered confidentially.
Clear pricing - The HFE gene test is currently listed at £369.
Private HFE gene (Haemochromatosis) – Common Mutations C282Y + H63D Test in London
London Blood Tests provides private HFE genetic testing for people requiring assessment of hereditary haemochromatosis risk.
The test is currently listed at £369 and assesses the common C282Y and H63D HFE variants.
Results are expected approximately 5 days after laboratory receipt.
The genetic result identifies inherited susceptibility and should be interpreted alongside Ferritin, Transferrin Saturation and the wider clinical picture.