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|Title:||European External Quality Control Study on the Competence of Laboratories to Recognize Rare Sequence Variants Resulting in Unusual Genotyping Results|
|Authors:||MARKI-ZAY Janos; KLEIN Christoph; GANCBERG David; SCHIMMEL Heinz; DUX L.|
|Citation:||CLINICAL CHEMISTRY vol. 55 no. 4 p. 739-747|
|Publisher:||AMER ASSOC CLINICAL CHEMISTRY|
|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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