Why Pharmacogenomics?

Patient’s Choice Laboratories™ (PCL) is proud to offer the following Pharmacogenetic testing panels to help you to better serve your patients. Pharmacogenetic testing provided by PCL will allow you to deliver personalized medicine to your patients that is custom-tailored to their specific needs and conditions such as pain management, mental health, and cardiovascular risk. These tests have been extensively validated in-house by highly trained scientists under strict conditions that satisfy CLIA and CAP requirements.

Testing genes involved in metabolism of pharmaceuticals can provide important genetic information to help you identify the ideal drug for your patients, offering the opportunity to maximize the therapeutic effect while reducing adverse drug reactions (ADRs).

Results will be reported in standard nomenclature such as “Poor Metabolizer”, “Intermediate Metabolizer”, “Normal Metabolizer”, and “Rapid Metabolizer”, with specific recommendations based on clinical research for the medications your patients are taking that can be listed on the requisition form.

Poor Metabolizer (PM): Presence of mutations, usually on both chromosomes or in multiple locations on the gene, which significantly decrease or completely inhibit expression of the mutated gene. This generally results in a decreased dosage recommendation or change in medication to something more easily metabolized by the patient.

Rapid Metabolizer (RM): Presence of mutations, usually on both chromosomes or in multiple locations on a gene, which significantly increase expression of the mutated gene. This generally results in an increased dosage recommendation.

Intermediate Metabolizer (IM): Presence of mutations on only one chromosome, or multiple mutations only partially effecting expression of the mutated gene.

Wild Metabolizer (NM): No detected mutations (wild type).

Pharmacogenetic Panels Available from Patients Choice Laboratories

Comprehensive Panel

CYP2D6, CYP2C9, CYP2C19, CYP1A2,CYP3A4, CYP3A5, CYP2B6, VKORC1, SLCO1B1, APOE, OPRM1, COMT, GRIK4, ANKK1, Factor II (F2), Factor V (F5) Leiden, MTHFR


The Comprehensive Panel includes all of the genes PCL tests, which apply to multiple conditions including pain management, heart medications, general drug metabolism, mental health treatments, and cardiovascular risk factors.

Mental Health Panel

CYP2D6, CYP2C9, CYP2C19, CYP1A2,CYP3A4, CYP3A5, CYP2B6, COMT, GRIK4, ANKK1R


The Comprehensive Panel includes all of the genes PCL tests, which apply to multiple conditions including pain management, heart medications, general drug metabolism, mental health treatments, and cardiovascular risk factors.

Pain Panel

CYP2D6, CYP2C19, CYP1A2, CYP3A4,CYP3A5, OPRM1, COMT


When a patient’s metabolism is reduced or eliminated due to mutations in the genes on the Pain Panel, narcotics will deliver insufficient pain relief and potentially become toxic. When metabolism is increased from other mutations, negative side effects such as decreased respiratory function, nausea, and excessive sedation.

Some pain medications are prodrugs (such as codeine, which is converted into morphine), and need to be converted into different molecules by the enzymes these genes code for to provide pain relief. Patients with mutations in genes that cause metabolism of prodrugs can experience reduced pain relief (or sometimes no pain relief) compared to patients with no mutations.

Cardiovascular Panel

CYP2D6, CYP2C9, CYP2C19, CYP1A2,CYP3A4, CYP3A5, VKORC1, SLCO1B1,APOE, Factor II (F2), Factor V (F5) Leiden, MTHFR


The Cardiovascular Panel includes genes involved in metabolism of pharmaceuticals prescribed to cardiac patients such as Warfarin (Coumadin), Clopidogrel (Plavix), and beta blockers as well as a screen for mutations that are risk factors for thrombosis. Pharmacogenetic testing for these genes can help you and your doctor reduce the time it takes to find the right medication with the least amount of negative side effects.

Cardiovascular Risk Panel

APOE, Factor II (F2), Factor V (F5) Leiden, MTHFRR


PCL’s Cardiovascular Risk Panel addresses venous thromboembolism (VTE), a condition that includes deep vein thrombosis (DVT) and pulmonary embolism (PE). VTE is one of the top three most common cardiovascular diseases along with heart attack and stroke, and is estimated to occur in about 1 in 1000 people. Multiple mutations in these genes may increase a patient’s susceptibility to VTE.

Core Drug Metabolism Panel

CYP2D6, CYP2C9, CYP2C19, CYP3A4,CYP3A5, OPRM1, COMT, GRIK4, ANKK1,MTHFR


The Core Drug Metabolism Panelincludes genes that are important in the metabolism of many types of drugs. Knowing your genotype for these genes can provide you and your doctor with information to personalize your medication profile by increasing the effectiveness and decreasing the negative side effects of medications you take.

A Novel Collection Kit for Genetic Testing:
Click to open a full explanation of Patients Choice Laboratories’ COPAN eNAT with FLOQSwabs Testing

References:

  1. Blood Transfus. 2011 Apr; 9(2): 120–138. | 2. Hum Genet.2001 Oct;109(4):369-84. | 3. Trends Pharmacol Sci.2004 Apr;25(4):193-200. | 4. Clin Biochem Rev. 2006 Feb;27(1): 17–25. | 5. Clin Chem. 1997 Sept;43(9):1678-1683 | 6. Circulation2003;107: I-9-I-16. | 7. Am Fam Physician.2007 Aug;76(3):391-396. | 8. Pharmacogenet Genomics. 2009 Jul;19(7):556-8.