Article
Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.
The Journal of molecular diagnostics : JMD - 1 Sept 2015
Blais Jonatan, Lavoie Sébastien B, Giroux Sylvie, Bussières Johanne, Lindsay Carmen, Dionne Jacqueline, Laroche Mélissa, Giguère Yves, Rousseau François
Abstract excerpt
Quality control is a complex issue for clinical molecular diagnostic applications. In the case of genotyping assays, artifacts such as allele dropout represent a risk of misdiagnosis for amplification-based methods. However, its frequency of occurrence in PCR-based diagnostic assays remains unknown. To maximize the likelihood of detecting allele dropout, our clinical genotyping PCR-based assays are designed with...
Topics
- Alleles
- Artifacts
- Cystic Fibrosis Transmembrane Conductance Regulator
- Diagnostic Errors
- False Positive Reactions
- Genotype
- Genotyping Techniques
- Humans
- Loss of Heterozygosity
- Molecular Diagnostic Techniques
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide