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Genet Med. 2003 Nov-Dec;5(6):440-3.

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

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1
Foundation for Blood Research, Scarborough, Maine 04070-0190, USA.

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% CI 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.

[Indexed for MEDLINE]

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