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

18 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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