Article
Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016
Press Richard D, Eickelberg Garrett, McDonald Thomas J, Halley Jaimie, Long Thomas, Tafe Laura J, Weck Karen E
Abstract excerpt
PURPOSE: The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants). This study used 10 years of PT data to determine laboratory performance for HFE analytical genotyping and clinical interpretation. METHODS: Laboratories were graded for accuracy of genotype determination (six possible...
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