Test code: 2532
Effective update from 27/07/2018
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Not detected. * Fiability of the test: 99 % |
Not detected.
Technique: DNA extraction and subsequent
amplification by real-time PCR, for
detection of C282Y, H63D and S65C
mutations related to hemochromatosis.
in homozygous state in 75-90% of patients diagnosed with hemochromatosis. C282Y / H63D genotype occurs in 5% of those patients, being advisable to carry out periodic controls of the saturation index of transferrin and ferritin. Presence of H63D mutation in homozygous state leads to biochemical alterations, but the clinical manifestations of the disease are rare.
S65C variant does not influence on
iron metabolism markers.
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