PHARMACOGENOMICS (PGx)

Endocrine & Metabolic 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

Cardio-kidney-metabolic (CKM) conditions often require complex medication regimens, with patients frequently experiencing variability in drug response. Genetic differences in drug-metabolizing enzymes, transporters, and target pathways can influence treatment outcomes for cardiovascular disease, chronic kidney disease, and metabolic disorders. Pharmacogenomic testing enables more personalized prescribing, helping to improve efficacy, reduce adverse drug reactions, and support better long-term disease management.

Endocrine& Metabolic PGx Test Panel
CYP2D6, ATM, FII, FV, MTHFR, CYP2C9, CYP3A4, CYP3A5
Medication Gene
Metformin ATM
Estrogen-containing oral contraceptives FV, FII, MTHFR
Eliglustat CYP2D6
Saxagliptin CYP3A4, CYP3A5
Glimepiride, Gliclazide, Glibenclamide, Tolbutamide CYP2C9
Frequency of Cytochrome P450 (CYP2D6, CYP2C9) Metabolizer Types in the population
Cytochrome Poor metabolizer Intermediate metabolizer Normal metabolizer Rapid or ultra-rapid metabolizer
CYP2D6 4-7% 9-35% 50-90% 2-3%
CYP2C9 3% 30% 68% N/A
Tagged Genes

Primary panel:

7 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