Cytochrome P450 2D6 Genotyping Assay

 

The FDA cleared Luminex xTAG CYP2D6 assay, offered by CMCD, is used to simultaneously detect and identify a panel of nucleotide variants found within the highly polymorphic CYP2D6 gene located on chromosome 22 from genomic DNA. This kit can also identify gene rearrangements associated with the deletion (*5) genotype.

CYP2D6 acts on 25% of all prescription drugs. 7-14% of the population has a slow acting form of this enzyme and 7% a super-fast acting form. 35 percent are carriers of a nonfunctional CYP2D6 allele, which especially elevates the risk of adverse drug reactions when these individuals are taking multiple drugs.

Drugs that CYP2D6 metabolizes include selective serotonin reuptake inhibitors (SSRI), tricylic antidepressants (TCA), beta-blockers, opiates, neuroleptics, antiarrhythmics and a variety of toxic plant substances. Specific notable drugs include Prozac, Zoloft, Paxil, Effexor, hydrocodone, amitriptyline, Claritin, cyclobenzaprine, Haldol, metoprolol, Rythmol, Tagamet, tamoxifen, and the over-the-counter diphenylhydramine drugs, Allegra, Dytuss, and Tusstat. CYP2D6 is also responsible for activating the prodrugs codeine and other opioids into their active forms. The analgesic activity of the drugs is therefore reduced or absent in CYP2D6 poor metabolizers.

Indication for Testing

For individuals with a personal or family history of adverse drug reactions to medications metabolized by CYP2D6. Confirm presence of genotypes that affect the metabolism of drugs such as tamoxifen that are metabolized by CYP2D6.

For individuals with a personal or family history of adverse drug reactions to medications metabo- lized by CYP2C19. Confirm presence of genotypes that affect the metabolism of drugs such as Plavix that are metabolized by cytochrome CYP2C19.

 

Collection Method

(For 2D6 and 2C19)

Please call Client Services at (330) 405-2623 to obtain specimen kits.

Type: Buccal Swabs
Turn Around Time: 5 Days from receipt of specimen in laboratory

CYP2D6 Clinical Applications Case Study: Death of Breastfeeding Infant Due to Opioid Toxicity

A full-term healthy male infant presented with intermittent difficulty with breastfeeding and lethargy starting at day 7 after birth. On day 12 he had gray skin and decreased milk intake, and on day 13 he was found dead.

Koren, G., et al