Clinical Context
A typical patient is an adult or pediatric patient undergoing pharmacogenomic evaluation after an initial CYP2D6 targeted assay (0070U) returns indeterminate or incomplete genotype results. The referring clinician — commonly a clinical pharmacologist, primary care physician, psychiatrist, oncologist, or pain specialist — orders full gene sequencing to resolve ambiguous copy number variation, hybrid alleles, rare variants, or complex structural rearrangements that affect CYP2D6 enzyme activity. Specimens are collected as peripheral blood (EDTA) or buccal/swab samples in an outpatient clinic, hospital lab, or specialty clinic and sent to the performing laboratory (Mayo Clinic Laboratory) for proprietary analysis.
The clinical workflow: the provider documents medication history and reason for testing in the electronic health record, obtains informed consent if required, collects the specimen, and submits the test order with clinical indication (for example, adverse drug reaction, unexpected therapeutic failure, or need for precise dosing of opioids, antidepressants, antipsychotics, tamoxifen, or other CYP2D6-metabolized medications). The laboratory performs full-gene sequencing and issues a report detailing diplotype, predicted metabolizer phenotype (e.g., poor, intermediate, normal, ultrarapid), and interpretive comments relevant to drug metabolism. Results are returned to the ordering clinician for medication management decisions and documented in the patient chart.