Nearly all people with haemochromatosis will carry identifiable variants in the HFE gene, confirmed by a blood test, which can then be used in identifying family members who are at risk. Most affected individuals will have two copies of a variant called C282Y. Some will have one copy of C282Y and one called H63D. People with two copies of H63D do not seem to be at particular risk of iron overload themselves.
HFE gene (Haemochromatosis) – common mutations C282Y + H63D
£274.85
Haemochromatosis, also called iron overload, can result from several medical conditions, the most common of which is an inherited disorder of iron metabolism that occurs mainly in white skinned people (Caucasians), termed hereditary haemochromatosis or HH.
Est. Result Turnaround Time : 3 days
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