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 language | English (US) |
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Pages (from-to) | 440-443 |
Number of pages | 4 |
Journal | Genetics in Medicine |
Volume | 5 |
Issue number | 6 |
DOIs | |
State | Published - Nov 2003 |
Externally published | Yes |
Keywords
- Analytic validity
- C282Y
- HFE
- Hemochromatosis
- Proficiency testing
ASJC Scopus subject areas
- Genetics(clinical)