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Gaedigk, Andrea,Garcia-Ribera, Carles,Jeong, Hye-Eun,Shin, Jae-Gook,Hernandez-Sanchez, Juanjo,Hernandez-Sanchez, Juanjo T Ashley Publications 2014 Pharmacogenomics Vol.15 No.9
<P>A Han Chinese patient failed CYP2D6 genotype analysis with the AmpliChip CYP450 Test. The CYP2D6 gene locus of the patient and her son were extensively genotyped including copy number variation and gene resequencing. Two SNPs were discovered on the patient's CYP2D6*1 allele, -498C>A and 1661G>C, while the son's CYP2D6*1 allele had -498C>A only. AmpliChip failure was attributed to the presence of a CYP2D6*1 allele carrying the 1661G>C SNP. Functional analyses of -498C>A did not reveal altered activity in vitro or in vivo suggesting that both novel CYP2D6*1 subvariants are functional. The implementation of pharmacogenetics-guided drug therapy relies on accurate clinical-grade genotype analysis. Although the AmpliChip is a reliable platform, numerous allelic (sub)variants and gene arrangements are not detected or may trigger no calls. While such cases may be rare, the clinical/genetic testing community must be aware of the challenges of CYP2D6 testing on the AmpliChip platform and implications regarding accuracy of test results.</P>