Why the study?
Does phenotypic aPC-R testing provide comparable accuracy to genotypic testing for Factor V Leiden?
Does phenotypic aPC-R testing provide comparable accuracy to genotypic testing for Factor V Leiden?
Phenotypic aPC-R testing is highly concordant with genotypic testing for Factor V Leiden and could significantly reduce testing costs.
Answers are grounded in this paper and cite their sources.
May support phenotypic aPC-R as FVL screening alternative; leaves open prospective validation before routine clinical use.
Objectives: To compare the accuracy and reliability of phenotypic activated protein C resistance (aPC-R) assays with a genotypic assay for the factor V Leiden F5 p.R506Q (FVL) mutation. Methods: Data were obtained from an electronic data warehouse for FVL testing performed at an academic institution with a large referral laboratory service. In total, 1,596 patients were identified who had undergone both phenotypic aPC-R and genotypic FVL mutation testing. Results: Phenotypic testing showed a high level of sensitivity, specificity, and other biostatistical values compared with genotypic testing. Improvements in technology decreased the amount of equivocal phenotypic results. Conclusions: Phenotypic assays had close to total concordance with genotypic assays over 16 years of testing. Changing ordering practices could result in up to an 80% reduction in testing costs.
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Murphy et al. (2018) studied this question.
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