Title: European External Quality Control Study on the Competence of Laboratories to Recognize Rare Sequence Variants Resulting in Unusual Genotyping Results
Authors: MARKI-ZAY JanosKLEIN ChristophGANCBERG DavidSCHIMMEL HeinzDUX L.
Citation: CLINICAL CHEMISTRY vol. 55 no. 4 p. 739-747
Publisher: AMER ASSOC CLINICAL CHEMISTRY
Publication Year: 2009
JRC Publication N°: JRC46807
ISSN: 0009-9147
URI: http://publications.jrc.ec.europa.eu/repository/handle/JRC46807
DOI: 10.1373/clinchem.2008.112102
Type: Articles in Journals
Abstract: Depending on the method used, rare sequence variants adjacent to the SNP of interest may cause unusual genotyping results. Therefore, a European proficiency study was organised to assess their influence on the laboratory results. The rare mutations were reported as "usual" genotypes in more than 50 % of cases, 21 % were attributed to technical issues and only 24.3 % were correctly identified. Of note, allele-specific amplification based PCR had a much higher error rate than other methods (18.3 % vs. 2.9 %). In conclusion, only a limited number of the participants could recognize and adequately report rare SNPs resulting in unusual genotyping results.
JRC Institute:Institute for Reference Materials and Measurements

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