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, Carolyn (Sue) Richards, Timothy T. Stenzel, Wayne W. Grody

Research output: Contribution to journalArticle

17 Citations (Scopus)

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 2003
Externally publishedYes

Fingerprint

Mutation
Hemochromatosis
Population
Molecular Biology
Genotype
Sensitivity and Specificity
Surveys and Questionnaires
Pathologists

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Estimated analytic validity of HFE C282Y mutation testing in population screening : The potential value of confirmatory testing. / Palomaki, Glenn E.; Haddow, James E.; Bradley, Linda A.; Richards, Carolyn (Sue); Stenzel, Timothy T.; Grody, Wayne W.

In: Genetics in Medicine, Vol. 5, No. 6, 11.2003, p. 440-443.

Research output: Contribution to journalArticle

Palomaki, Glenn E. ; Haddow, James E. ; Bradley, Linda A. ; Richards, Carolyn (Sue) ; Stenzel, Timothy T. ; Grody, Wayne W. / Estimated analytic validity of HFE C282Y mutation testing in population screening : The potential value of confirmatory testing. In: Genetics in Medicine. 2003 ; Vol. 5, No. 6. pp. 440-443.
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