PHARMACOGENOMICS (PGx)

Comprehensive PGx Panel
Test description

This test is for individuals with a clinical diagnosis of long QT syndrome (LQTS). The primary Invitae Long QT Syndrome panel includes genes that are definitively associated with LQTS or other inherited arrhythmia disorders that may present with clinical features similar to LQTS. Individuals with clinical symptoms of LQTS may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic members of a family with a known LQTS pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms.

Patient (Consult a Provider)
Patient (Order a Kit)
Provider
Ordering information

Turnaround Time: 3-7 business days
Preferred speciment: Saliva
Alternate specimens: Buccal Swab

Testing Kit Request Form

Clinical description

Over 250 medicines currently have PGx testing listed on their FDA-approved labeling. One study found that 63% of adults and 29% of children with pharmacy insurance coverage were prescribed medicines that were significantly affected by their genes (Liu et al. 2021). According to CDC, Pharmacogenomics is an important example of the field of precision medicine, which aims to tailor medical treatment to each person or to a group of people. Pharmacogenomics looks at how your DNA affects the way you respond to drugs. In some cases, your DNA can affect whether you have a bad reaction to a drug or whether a drug helps you or has no effect. Depending on the genetic profile, some medications may act faster or slower, or produce more or less side effects in each patient. This indicates that patients can receive tailored therapy based on PGx testing results.

Tagged Genes

Primary panel:

31 genes selected

References
  • Evans WE, McLeod HL. Pharmacogenomics—drug disposition, drug targets, and side effects. N Engl J Med. 2003;348(6):538–549.
  • Johnson JA, Cavallari LH. Pharmacogenetics and cardiovascular disease: implications for personalized medicine. Pharmacol Rev. 2013;65(3):987–1009.
  • Cavallari LH, Lee CR, Beitelshees AL, et al. Multisite investigation of outcomes with implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention. JACC Cardiovasc Interv. 2018;11(2):181–191. doi:10.1016/j.jcin.2017.07.022
  • Jneid H, Anderson JL, Wright RS, et al. 2012 ACCF/AHA focused update of the guideline for the management of patients with unstable angina/non–ST-elevation myocardial infarction. Circulation. 2012;126(7):875–910. doi:10.1161/CIR.0b013e318256f1e0
  • Scott SA, Sangkuhl K, Stein CM, et al. Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin Pharmacol Ther. 2013;94(3):317–323. doi:10.1038/clpt.2013.105
  • Johnson JA, Caudle KE, Gong L, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for pharmacogenetics-guided warfarin dosing: 2017 update. Clin Pharmacol Ther. 2017.
  • Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine (SEARCH) Collaborative Group. Intensive lowering of LDL cholesterol with 80 mg versus 20 mg simvastatin daily in 12,064 survivors of myocardial infarction: a double-blind randomised trial. Lancet. 2010;376(9753):1658–1669. doi:10.1016/S0140-6736(10)60310-8
  • The SEARCH Collaborative Group. SLCO1B1 variants and statin-induced myopathy—a genomewide study. N Engl J Med. 2008;359(8):789–799. doi:10.1056/NEJMoa0801936
  • Clinical Pharmacogenetics Implementation Consortium (CPIC). Genes–drug pairs. https://cpicpgx.org/genes-drugs
  • U.S. Food and Drug Administration. Table of pharmacogenomic biomarkers in drug labeling. https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling