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Background:  CYP2D6, a major drug-metabolizing enzyme, is encoded by a highly polymorphic and complex gene locus. We have identified a patient who failed to produce a  CYP2D6  genotype with the AmpliChip P450 Test ®  (AmpliChip), whereas his  CYP2C19  genotype was readily determined. The aim of this investigation was to fully characterize the patient’s  CYP2D6  gene locus to resolve the AmpliChip no-call.

Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test ® no-call in the clinical setting