European External Quality Control Study on the Competence of Laboratories to Recognize Rare Sequence Variants Resulting in Unusual Genotyping Results

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.

MARKI-ZAY Janos;  KLEIN Christoph;  GANCBERG David;  SCHIMMEL Heinz;  DUX L.; 

2009-03-30

AMER ASSOC CLINICAL CHEMISTRY

JRC46807

0009-9147,   

https://publications.jrc.ec.europa.eu/repository/handle/JRC46807,   

10.1373/clinchem.2008.112102,