The Pharmacogenomic (PGx) Algorithm: A common discussion among experts revolves around pharmacogenomic (PGx) testing algorithms. Many commercial tests are proprietary, and therefore, their algorithms are considered a “black box”.1 This white paper…
Summary: The human leukocyte antigen (HLA) complex plays an important role in immune regulation. HLA-B*1502 has demonstrated the ability to predict an increased risk of severe skin reactions, such as Stevens-Johnsons…
What is MTHFR? The methylenetetrahydrofolate reductase (MTHFR) enzyme converts synthetic folic acid and dietary folate into its active form, L-methylfolate, which plays a critical role in neurotransmitter synthesis. Some individuals…
Summary: Minimal evidence exists linking CACNA1C as a pharmacogenomic marker, and CACNA1C shows little clinical utility as a disease marker. While there is an association between CACNA1C and bipolar disorder…
How are molecular diagnostic tests evaluated? Molecular diagnostic testing and pharmacogenomic testing differ in their objectives and possible testing outcomes. Diagnostic testing detects whether an individual is affected with a…
Introduction Pharmacogenomic reports contain a lot of useful information. Sometimes there is so much information the report can seem overwhelming. To overcome this issue and to increase the clarity of…
In multiple previous studies, the GeneSight test, a combinatorial multigene pharmacogenomic test, powered by CPGx® technology, has shown an ability to predict poorer antidepressant outcomes and to help guide healthcare…
What is the gene-drug interaction chart? Healthcare providers and patients often inquire about how they can determine which genes affect response to each medication. The gene-drug interaction chart provides supplementary…
Summary: ANK3 has not been shown to inform on patient medication response and therefore is not a pharmacogenomic marker. As a disease marker, it lacks clinical utility. There is an…
What is UGT2B15? The UGT2B15 gene encodes an enzyme responsible for glucuronidation, a phase II metabolic reaction that transforms small lipophilic molecules into water-soluble excretable metabolites. The UGT2B15 enzyme is…
What is UGT1A4? The UGT1A4 gene encodes an enzyme of the glucuronidation pathway, a phase II metabolism process that transforms small lipophilic molecules into water-soluble excretable metabolites. The UGT1A4 enzyme…
What is HTR2A? The 5-HT2A receptor, encoded by the HTR2A gene, is responsible for post-synaptic serotonin signaling and is a target for many antipsychotics and antidepressants.1 Two single nucleotide polymorphisms…
