Haemochromatosis Gene Test | 18 Mutations
Discover your inherited risk of iron overload before it harms your health.
This genetic test is for anyone with a personal or family history of iron overload, unexplained fatigue, joint pain, liver problems, or abnormal iron studies. It screens for 18 mutations across three genes linked to hereditary haemochromatosis, a condition where the body absorbs too much iron. Early identification allows monitoring and treatment to prevent organ damage.
HFE gene (Type 1 haemochromatosis)
- C282Y
- H63D
- S65C
- V53M
- V59M
- H63H
- Q127H
- P160delC
- E168Q
- E168X
- W169X
- Q283P
TFR2 gene (Type 3 haemochromatosis)
- E60X
- M172K
- Y250X
- AVAQ594-597del
FPN1 / SLC40A1 gene (Type 4, ferroportin disease)
- N144H
- V162del
Why it matters
Haemochromatosis is one of the most common inherited conditions in people of Northern European descent, yet it is often missed because early symptoms are vague. Knowing your genetic status helps you and your doctor decide on appropriate iron monitoring, lifestyle adjustments, and family screening. Early action can prevent serious complications such as liver cirrhosis, diabetes, and heart problems.
HFE gene (Type 1 haemochromatosis)
- C282Y
- H63D
- S65C
- V53M
- V59M
- H63H
- Q127H
- P160delC
- E168Q
- E168X
- W169X
- Q283P
TFR2 gene (Type 3 haemochromatosis)
- E60X
- M172K
- Y250X
- AVAQ594-597del
FPN1 / SLC40A1 gene (Type 4, ferroportin disease)
- N144H
- V162del
No special preparation required.
For blood tests, we recommend drinking plenty of water beforehand to ensure smooth sample collection. If you are taking any regular medication, continue to do so unless advised otherwise by your doctor.
Important Clinical Information:
This test is a screening tool to monitor and support your overall health. It does not replace your GP or consultant.
Always discuss your test results, especially any abnormal results, with your GP, who can interpret them in the context of your medical history and overall health.