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Abstract
Aim: This study investigated the possible cause of false-positive detection of CYP2D6 gene duplication (CYP2D6XN) using the standard TaqMan-based real-time PCR assay from Thermo Fisher Scientific. Methods: Used samples of two copy carriers as control to evaluate the effect of sample storage condition and the reference genes with respect to test accuracy. Results: The standard test from Thermo Fisher Scientific produced false-positive results of the CYP2D6XN detection when samples were exposed to high temperature and high humidity. The unbalanced template stability between the CYP2D6 testing target and the RNase P reference target was likely the source of error. The problem was reduced but not eliminated when the telomerase reverse transcriptase gene was used as the reference. Conclusion: Special care is required in sample handling, testing and data verification to ensure accurate test results and avoid misdiagnosis of an individual as a CYP2D6 ultra-rapid metabolizer.
Financial & competing interests disclosure
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.
Ethical conduct of research
The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.