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C282Y Homozygosity: Sensitivity and Specificity

Introduction: None written. Excerpt from the entry in Hemochromatosis:
For a diagnosis of hereditary hemochromatosis, in patients diagnosed with hemochromatosis. Note that there is variable penetrance of the mutation, namely not all patients with the mutation will have hemochromatosis.

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Associated Diagnoses:


82% sensitive, 98.8% specific