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Pharmacogenomics. 2015;16(7):681-7. doi: 10.2217/pgs.15.30. Epub 2015 May 1.

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

Abstract

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.

KEYWORDS:

AmpliChip® CYP450; CYP2D6; GenoChip CYP2D6; cytochrome P450; genotyping; pharmacogenetics

PMID:
25929855
DOI:
10.2217/pgs.15.30
[Indexed for MEDLINE]

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