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
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).
Individuals who meet the defined clinical criteria for being prescribed specific drugs for cardiovascular conditions.
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.
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.
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
Pharmacogenetics Expanded Panel (MPG01)