CYP2D6 Genotyping


Related Gene(s): CYP2D6

The human cytochrome P450 superfamily is responsible for metabolizing exogenous and endogenous substrates. The cytochrome P450-2D6 (CYP2D6) enzyme contributes to the metabolism of ~25% of commonly prescribed drugs, including antiarrhythmics, anticancer agents, tricyclic antidepressants, serotonin-selective reuptake inhibitors, antiemetics, antihistamines, antipsychotics, antiviral agents, beta-blockers, and opioids. The CYP2D6 gene is located on chromosome 22q13.2, and the homologous neighboring pseudogenes (CYP2D7 and CYP2D8) can lead to structural variation in this region, including CYP2D6 deletion and duplication. The CYP2D6 gene has nine exons and is highly polymorphic, with over 100 variant star (*) alleles currently defined by the Human Cytochrome P450 Allele Nomenclature Committee.

This targeted genotyping test interrogates the following variants (including the gene duplication): Normal function – *2, *35; decreased function – *9, *10, *17, *29, *41; no function – *3, *4, *5; deletion – *6, *7, *8, *11, *15.


Specimen Requirements

Postnatal

  • Anticoagulated blood: Two 5-10 mL tubes with EDTA (lavender top) are preferred. ACD tubes (yellow top) are also accepted
  • Additionally, we can accept saliva specimens

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 7-10 days

Related Tests


Resources

General Test Requisition