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Article

Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Palomaki Glenn E, Haddow James E, Bradley Linda A, Richards C Sue, Stenzel Timothy T, Grody Wayne W

Abstract excerpt

PURPOSE: The purpose of this study was to estimate analytic sensitivity and specificity of HFE testing for C282Y homozygosity in the hypothetical setting of population screening for hemochromatosis. METHODS: We analyzed published results of the Molecular Genetics Survey performed by the American College of Medical Genetics/College of American Pathologists between 1998 and 2002, taking into account its educational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14614395
DOI: 10.1097/01.gim.0000096500.66084.85

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HFE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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