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It is often used to imply an association with the HFE gene. For many years, HFE was the only known gene associated with haemochromatosis, and the term "hereditary haemochromatosis" was used to describe haemochromatosis type 1. However, many different genetic associations with this condition are now known. The older the text, or the more general ...
Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a transmembrane protein that in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2 [ 5 ]
Once iron overload has been established, HFE gene mutation genetic testing for hereditary causes of iron overload is indicated. [39] [15] The presence of HFE gene mutations in addition to iron overload confirms the clinical diagnosis of hereditary hemochromatosis. [39]
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Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
Common concerns about genealogical DNA testing are cost and privacy issues. [64] Some testing companies, such as 23andMe and Ancestry, [65] retain samples and results for their own use without a privacy agreement with subjects. [66] [67] Autosomal DNA tests can identify relationships but they can be misinterpreted.
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