GenoChip CYP2D6 macroarray as a method to genotype for CYP2D6 variants: results of a validation study in a Caucasian population.

Aim: The aim of this study was to investigate the concordance between the novel GenoChip CYP2D6 macroarray and the AmpliChip, which is considered the gold standard in CYP2D6 genotyping.

Materials & Methods: Germline DNA of 200 patients was genotyped with both the AmpliChip and the GenoChip CYP2D6 macroarray.

Results: One hundred and ninety-eight samples (99%) showed concordance. In two discordant samples the AmpliChip identified a *41 allele while the GenoChip CYP2D6 macroarray did not. Sanger sequencing showed that the 2988G>A mutation and thus the *41 allele was not present in both samples.

Conclusion: We conclude that that the GenoChip CYP2D6 macroarray is a valid method for detecting genetic variants of CYP2D6 in a Caucasian population. Original submitted 10 November 2014; Revision submitted 23 February 2015.