Pharmacogenomics – Pain Management

$150.00

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About the Test

CYP2D6 gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics.

Overview
Genes

10 Genes

ABCB1, ANKK1, COMT, CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, OPRM1

Disorders

Treatment and Management of Pain

Gene Function

CYP2D6 gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics.

https://www.genestreet.com/wp-content/uploads/2020/01/Pharmacogenomics-Gene-Function.pdf

Clinical Utility

Many common pain medications require activation by an enzyme called CYP2D6 to become effective.

Approximately half of all patients have genes that alter the function of CYP2D6.   The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme’s substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene.

Other metabolic pathways include CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, COMT, and OPRM1.

Testing for these gene alterations allows for dosage modifications to compensate for genetic differences and optimize the safety and efficacy of the opioid family of analgesics.

When To Order
Benefit To Patient
Lab Method & Assay
  • PCR
Test Limitations
Specimen Requirements

Buccal Swab

Turn Around Time

1-2 weeks

CPT Codes

81225, 81226

References
  1. OMIM: CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6
  2. OMIM: DRUG METABOLISM, POOR, CYP2D6-RELATED