Cytochrome P450 2C19 Genotyping
Also known as: DME Genotyping
Use
Cytochrome P450 2C19 (CYP2C19) is a drug-metabolizing enzyme involved in the metabolism of several clinically important drugs including the platelet aggregation inhibitor clopidogrel, the tricyclic antidepressants amitriptyline and nortriptyline, the selective serotonin reuptake inhibitors citalopram and sertraline, and some proton pump inhibitors including omeprazole and pantoprazole. Individuals with some variant CYP2C19 alleles may experience a reduced therapeutic response and may be at risk for side effects from drugs that are metabolized by CPY2C19. CYP2C19 genotype information can be utilized to predict CYP2C19 metabolic phenotype, which can be used as an aid in determining a therapeutic strategy for drugs that are metabolized by CYP2C19. For example, the use of clopidogrel with an intermediate or poor metabolizer is associated with reduced platelet inhibition and an increased risk of cardiovascular complications, such as myocardial infarction, stroke, stent thrombosis and/or death, as compared with normal metabolizers. In these instances, alternative drugs may be considered. Ultrarapid metabolism is associated with lower platelet activity, but there is no association with higher bleeding risk.
Special Instructions
CYP2C19 genotype information can be useful for predicting metabolic phenotype and adjusting drug therapy accordingly. Alternative drugs may be considered for individuals with significant variations in metabolizer status. Patients should discuss test results and treatment adjustments with their healthcare provider.
Limitations
The test detects specific variants within the CYP2C19 gene, assigning known variant alleles and the wild-type sequence (*1 allele). Not all possible variants in CYP2C19 or other drug metabolism pathways are detected by this assay. The genotype effect on drugs can vary due to other factors like environment, diet, and medication interactions, which should also be considered when developing therapeutic strategies. Molecular-based testing is highly accurate, but rare diagnostic errors may occur.
Methodology
PCR-based (RT-PCR)
Biomarkers
LOINC Codes
- 57132-3
- 57132-3
- 79714-2
- 72486-4
- 56850-1
- 62364-5
- 8262-8
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
1 mL
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Collection Instructions
Collect specimen in a lavender-top (EDTA) or yellow-top (ACD) tube. Ship at room temperature or frozen.
Storage Instructions
Maintain whole blood specimen at room temperature or refrigerated for 28 days or frozen for 2 years.
Causes for Rejection
Quantity not sufficient for analysis; improper container; frozen glass tube.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 28 days |
| Refrigerated | 28 days |
| Frozen | 2 years |
