Any clinician based in South-East Scotland can request tests for hereditary haemochromatosis, whether because potentially symptomatic, or because of a family history of the condition.
Molecular and Biochemical testing is recommended
B.C & C.E 22-02-23
Flowchart of Advice for asymptomatic relatives
Molecular testing
Molecular lab will test for two common variants (C282Y/Cys282Tyr and H63D/His63Asp) & report results by 4-6 weeks directly to referring clinician.
- 1x EDTA tube
- Complete molecular genetic test request form with
- Referring clinician’s details.
- Request: “HFE gene test”.
- If patient has a relative with hereditary haemochromatosis, provide details of the affected relative’s name, DOB, region where they live, family mutation details (if known).
- If patient is being tested due to symptoms, please note this on the lab form.
Biochemistry testing
- Test for transferrin saturation and ferritin levels
- brown cap, gel clotted tube sample with local haematology/ biochemistry form and follow high ferritin guidelines (link below).
Interpretation of genetic test results & guidance on high ferritin levels
Please see NHS Lothian Haematology Service guidance:
