Many factors can influence how medications work. These include, but are not limited to, age, concurrent medication use, severity of illness, adherence, diet, and underlying medical conditions.
Test codes:
Pharmacogenetics and pharmacogenomics are terms often used interchangeably. Pharmacogenomic (PGx) testing is a tool used to aid providers in tailoring treatments more specifically to the individual patient. The results provide valuable insights into genetic factors that can influence an individual's response to a number of medications.1,2
The Quest Diagnostics Pharmacogenomics Panel detects changes in multiple genes that impact the metabolism and response to a large number of commercially available medications. When test code 14272 is ordered, the genetic results (genotype/diplotype) and phenotype will be provided, with no medication guidance. If medication guidance is desired, test code 14271 can be ordered, which includes a link to Coriell Life Sciences and offers an enhanced report along with medication guidance based on the genetic results. The report from Coriell Life Sciences is not reviewed by Quest and is solely developed and reported by Coriell's professional staff.
Many factors can influence how medications work. These include, but are not limited to, age, concurrent medication use, severity of illness, adherence, diet, and underlying medical conditions.
Results for genes that code for drug metabolizing enzymes may be reported as Normal Metabolizer (NM), Intermediate Metabolizer (IM), Poor Metabolizer (PM), Rapid Metabolizer (RM), or Ultrarapid Metabolizer (UM). An NM result indicates that the patient is likely to break down medications through this genetic pathway normally. Patients with IM or PM results may metabolize medications more slowly than do NM patients and may experience reduced effectiveness or unwanted side effects from some medications. On the other hand, patients with RM or UM results may process some medications more quickly, which may also impact the effectiveness or the risk of side effects. In addition to genes that code for drug-metabolizing enzymes, the panel includes other genes that may influence medication response.
The Quest report does not include medication guidance or clinical annotations; however, a link to obtain a comprehensive gene-drug interaction report from Coriell Life Sciences will be available at no additional cost when test code 14271 (Pharmacogenomics panel with medication guidance from Coriell) is ordered. Information provided by Coriell may be updated as new information becomes available. Providers can access updated information through the provided link using Coriell’s GeneDose live software. If test code 14271 is not ordered, no link will be available. It will not be possible to obtain medication guidance from Coriell at a later date after results for 14272 Pharmacogenomics panel without medication guidance are provided.
There are several reasons why a result may show more than one possible diplotype or phenotype. In the case of CYP2D6 duplications, the assay cannot determine the exact number of gene duplications present, nor can it determine which of the 2 alleles may be duplicated. Thus, in some instances, when CYP2D6 duplications are present, a range of phenotypes may be possible and cannot be definitively determined by this assay. In addition, since many alleles contain multiple variants occurring together (eg, haplotypes), it may not be possible in some cases to definitively determine the arrangement of the variants, which could lead to multiple different potential diplotypes and/or phenotypes.
Yes. Duplications of the CYP2D6 gene are detected, but this assay cannot determine the identity or the precise number of copies of the duplicated allele(s). When a duplication is identified, the prediction of phenotype is based on the best available data for allele copy number.
No. This test evaluates the most common variants within each of the genes tested and includes variants recommended by professional groups like the Association for Molecular Pathology (AMP) and the Clinical Pharmacogenetics Implementation Consortium (CPIC). Less common variants may not be included in this testing. An allele that is negative for the variants tested by this assay is inferred to be the wild type or *1 (normal activity) allele; however, the presence of more rare variants not tested by this assay cannot be excluded.
No. While pharmacogenomic testing can offer important insights for many commercially available medications, not all have a clearly established pharmacogenetic association. In addition, some pharmacogenes may not be included in this testing. Therefore, patients should speak with a healthcare provider to find out if this testing is right for them.
The Quest Pharmacogenomics Panel, for both Test Codes 14271 and 14272, includes information on the genes listed below. However, the list of genes and alleles is subject to change.
For a complete, up-to-date list of genes in the panel, please contact 866.436.3463 (866.GENE.INFO).
References
This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on the physician’s education, clinical expertise, and assessment of the patient.
Document FAQS.206 Version: 2
Version 2: Effective 07/28/2025 to present
Version 1 was unpublished due to the test not being offered at this period 03/15/2024 to 07/28/2025
Version 1: Effective 08/21/2019 to 03/15/2024
Version 0: Effective 01/30/2019 to 08/21/2019 present