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. Pharmacogentics Extended Test targets variants to genotype for various haplotypes among the following 14 genes.
Genes and Alleles Tested:
COMT NM_000754.3:c.472G>A(p.V158M); rs4680
CYP1A2 *1C, *1D, *1E, *1F, *1J, *1K, *1L, *1V, *1W;
CYP2B6 *7, *16, *5, *6, *9, *18, *22;
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
OPRM1 NM_000914.3:c.118A>G(p.N40D); rs1799971
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, cancer treatments, psychotropic medications, and pain management.
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 Cardiovascular Panel (MPG02)
Pharmacogenetics Pain Management and Psychotropic Panel (MPG03)