title: Are you sure the patient is a CYP2D6 ultra-rapid metabolizer?
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Keqin
authors: K
authors: Gregg
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Wenjing
authors: W
authors: Guo
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Robert
authors: R
authors: Rhodes
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Ashrita
authors: A
authors: Simhadri
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Archana
authors: A
authors: Subramanya
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Paul
authors: P
authors: Samilpa
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Lyndsey
authors: L
authors: Langley
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Kyle
authors: K
authors: Ames
authors: Genotox Laboratories, 2170 Woodward Street, Suite 100, Austin, TX 78744, USA.
authors: Matt
authors: M
authors: McCarty
keywords:   ;   copy number;   gene duplication; CYP2D6 test accuracy; CYP2D6 ultra-metabolizer; TaqMan real-time PCR; reference gene