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 10 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;
OPRM1 NM_000914.3:c.118A>G(p.N40D); rs1799971
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 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.
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
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)