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

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

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

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 nature. Results: Analytic sensitivity for C282Y homozygosity is 98.4% (95% Cl 95.9%-99.5%). The analytic specificity is 99.8% (99.4%-99.9%). At a frequency of 40 per 10,000 for the homozygous genotype, the analytic positive predictive value is 66%. Conclusion: HFE testing for C282Y homozygosity is highly reliable. Homozygosity is uncommon in population screening, however, and confirmatory testing should be considered.

Original languageEnglish (US)
Pages (from-to)440-443
Number of pages4
JournalGenetics in Medicine
Volume5
Issue number6
DOIs
StatePublished - Nov 1 2003

Keywords

  • Analytic validity
  • C282Y
  • HFE
  • Hemochromatosis
  • Proficiency testing

ASJC Scopus subject areas

  • Genetics(clinical)

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