Neurological and Psychiatric 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.

Ordering information

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

Testing Kit Request Form

Clinical description

Many of patients with depression do not respond to their first anti depression medications. Response to these medications may be under genetic influence. In addition, the genetic profile of individuals may explain the differences in response to some of anti-seizure, anti- anxiety medications as well as other medications commonly used to treat neurological and psychiatric conditions.

Neurological and Psychiatric Medications

Medication	Gene
Carbamazepine, Oxcarbazepine, Phenytoin, Fosphenytoin	HLA-B*1502
Phenytoin, Siponimod, Fosphenytoin	CYP2C9
Brivaracetam, Moclobemide, Clobazam, Sertraline, Citalopram, Escitalopram, Diazepam, Amitriptyline, Clomipramine, Doxepin, Trimipramine, Imipramine	CYP2C19
Trazodone, Guanfacine, Eszopiclone, Alprazolam, Buspirone, Clonazepam, Cyclosporine, Quetiapine	CYP3A4, CYP3A5
Sertraline	CYP2B6
Bupropion	ANKK1
Methylphenidate, Clonidine	ADRA2A
Dextroamphetamine, Methylphenidate, Lisdexamfetamine, Dexmethylphenidate, Amphetamine	COMT
Oxazepam, Lorazepam	UGT2B15
Succinylcholine	BCHE
Haloperidol, Olanzapine, Iloperidone, Aripiprazole, Aripiprazole Lauroxil, Pimozide, Risperidone, Thioridazine, Perphenazine, Clozapine, Brexpiprazole, Zuclopenthixol, Mirtazapine, Amitriptyline, Vortioxetine, Venlafaxine, Clomipramine, Desipramine, Doxepin, Duloxetine, Protriptyline, Flupenthixol, Nortriptyline, Fluvoxamine, Paroxetine, Fluoxetine, Donepezil, Fesoterodine, Tolterodine, Atomoxetine, Tetrabenazine, Galantamine, Dextromethorphan-Quinidine, Sertindole, Cevimeline, Amphetamine, Dapoxetine, Amoxapine, Trimipramine, Imipramine, Pitolisant, Tolperisone, Deutetrabenazine, Valbenazine	CY2D6

Frequency of Cytochrome P450 (CYP2D6, CYP2C9, CYP2C19) 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
CYP2C19	2-20%	24-36%	14-44%	30%

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

PHARMACOGENOMICS (PGx)