Pharmacogenetics: Cardiovascular Panel

Condition Description

Pharmacogenomics (or pharmacogenetics), abbreviated PGx, is the study of how genes affect a person’s response to certain drugs. PGx testing uses genetic information to predict how individual patients will metabolize some prescription medications. This prediction allows an effective dose to be tailored to a person’s genetic makeup, helping to prevent adverse drug reactions. Pharmacogenetics Cardiovascular Panel targets variants to genotype for various haplotypes among the following 9 genes.

Genes and Alleles Tested:
CYP2C19 *2, *3, *4, *4B, *5, *6, *7, *8, *9, *10, *17;
CYP2C9 *2, *3, *4, *5, *6, *11;
CYP2D6 *2, *3, *4, *4M, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *41, *5 (gene deletion), XN (gene duplication);
CYP3A4 *1B, *2, *3, *12, *17, *22;
CYP3A5 *2, *3, *3B, *3C, *6, *7, *8, *9;
F2 NM_000506.3:c.*97G>A; rs1799963
F5 NM_000130.4:c.1601G>A(p.R534Q); rs6025
SLCO1B1 *5
VKORC1 NM_024006.4:c.-1639G>A; rs9923231

Note that “*” (read as “star”) denotes the common name of a haplotype (or combination of alleles within a gene on the same chromosome).

Genes (0)

Indications

Individuals who meet the defined clinical criteria for being prescribed specific drugs for cardiovascular conditions.

Methodology

The test uses custom manufactured TaqMan® drug metabolism and SNP genotyping assays in 384-well format that are run on the QuantStudio™ 6 Flex platform. The complete test consists of two components: SNP genotyping and copy number quantification. The SNP genotyping component consists of 64 TaqMan® SNP Assays for 63 loci, which include single base and short insertion/deletion polymorphisms. The copy number component consists of one TaqMan® Copy Number assay for the CYP2D6 gene.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Liquid Buccal Swab
LBC

Requirements
ORAcollect-DX (OCD-100)|Assisted saliva collection kit
DNA Genotek ORAcollect-DX kit used according to manufacturer instructions.
Please contact EGL for a saliva collection kit for patients that cannot provide a blood sample.
Collection and Shipping
Please do not refrigerate or freeze saliva sample. Please store and ship at room temperature.
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

Pharmacogenetics Expanded Panel (MPG01)

How to Order

Requisition Forms