Also known as: HFE, HH, hereditary haemochromatosis, bronzed cirrhosis, iron storage disorder
Familial - Hepatic
Use of test
Haemochromatosis type 1 is an autosomal recessive disorder caused by two common mutations in the HFE gene. The majority of people with two mutated HFE genes remain unaffected.
In an affected person, the presence of one mutation increases the likelihood of a diagnosis of haemochromatosis Type 1 but is not diagnostic. The presence of two mutations is strongly suggestive of this diagnosis. The absence of mutations in this gene makes a diagnosis of haemochromatosis type 1 very unlikely.
In an unaffected person, the presence of one mutation indicates that the person is a carrier of this disorder, but is unlikely to be affected. The presence of two mutations places the person at high risk of developing iron overload, with a 2-30% risk (depending on the mutations found) of developing systemic complications.
This is an assay for heritable variants which can alter the probability that a person will develop a disorder. The test result is not, in isolation, diagnostic of a disease and the test result is not necessarily clinically significant for the patient's relatives. Use of the Sonic Genetics consent form (below) is not mandated, but could be used to guide the discussion with the patient.
Analysis of the HFE gene for the Cys282Tyr (C282Y), and His63Asp (H63D) mutations. Other variants in the HFE gene will not be detected by this test. Other causes of high ferritin/iron overload will not be detected, including rare genetic causes.
Requesting the test
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre (see link below).
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We recommend that the patient or another adult check the labelling of request forms and sample tubes.