Test Catalog

Test ID: PSYGP    
Psychotropic Pharmacogenomics Gene Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation

 

Identifying genetic variation in genes known to be associated with response and/or risk of toxicity with psychotropic medications

 

Evaluating patients who have failed therapy with selective serotonin reuptake inhibitors (SSRIs)

 

Evaluating patients with treatment-resistant depression

 

Predicting response time to improvement with SSRIs

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes targeted testing to evaluate the following genes: ANKK1, ADRA2, CHRNA3, COMT, CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, DRD2, EPHX1, GRIK4, HLA-A*31:01, HLA-B*15:02, HTR2A, HTR2C, MTHFR, OPRM1, SCN1A, SLC6A4 (5-HTT), UGT2B15.

 

CYP2D6 testing is done in 2 tiers when needed. Tier 1 uses a PCR-based 5'-nuclease assay to determine the variants present. All samples also have copy number determined by PCR-based 5'-nuclease assay. Testing in tier 1 allows for the detection of all common CYP2D6 variants (eg, *2, *3, *4, *5, *6, *7, *8, *9, *10, *17, *29, *35, *41) and rarer alleles such as *11, *12, *14A, *14B, and *15. Duplications and multiplications of alleles are also identified. Unitary and tandem CYP2D7-2D6 (*13) alleles and CYP2D6-2D7 (eg, *4N, *36, and *68) alleles can also be detected. Tier 2 testing involves sequencing using fluorescent dye-terminator chemistry and is only done if an ambiguous phenotype results from tier 1 testing. Approximately 3% of samples require tier 2 testing.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If a specimen requires follow-up for CYP2D6, then reflex testing will be performed as appropriate at an additional charge.

 

See CYP2D6 Comprehensive Cascade Testing Algorithm in Special Instructions.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

This panel provides a comprehensive analysis for multiple genes that have strong pharmacogenomic associations with medications used in the treatment of psychiatric disorders, including depression. Each sample is tested for specific variations with known functional impact. Pharmacogenomic data for the following specific variants are reviewed and reported (if present):

-ADRA2A rs1800544

-ANKK1 (DRD2 associated) rs1800497

-CHRNA3 rs1051730

-COMT rs4680

-CYP1A2 *1F, *1K, *6, and *7

-CYP2B6 *4, *5, *6, *7, *8, *9, *11, *12, *13, *14, *15, *16, *18, *19, *20, *21, *22, *23, *25, *26, *27, *28, *35, *36, and *38

-CYP2C9 *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *17, *18, *25, *26, *28, *30, *33, and *35

-CYP2C19 *2, *3, *4, *5, *6, *7, *8, *9, *10, *17, and *35

-CYP2D6 *2, *2A, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14A, *14B,*15, *17, *29, *35, *36, *41, *68, and CYP2D6 gene duplication; additional CYP2D6 variants may be detected through the reflex testing process

-CYP3A4 *8, *11, *12, *13, *16, *17, *18, *22, and *26

-CYP3A5 *3, *5, *6, *7, *8, and *9

-DRD2 rs1799978

-EPHX1 rs2234922

-GRIK4 rs1954787

-HLA-A*31:01

-HLA-B*15:02

-HTR2A rs7997012

-HTR2C rs3813929 and rs1414334

-MTHFR rs1801131 and rs1801133

-OPRM1 rs1799971

-SCN1A rs3812718

-SLC6A4 linked polymorphic region (LPR), a 44-base pair promoter insertion/deletion polymorphism

-UGT2B15 rs1902023

 

Based on the results of each assay, a genotype is assigned and a phenotype is predicted for each gene. Assessment of multiple genes may assist the ordering clinician with personalized drug recommendations, avoidance of adverse drug reactions, and optimization of drug treatment.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided that focuses on medications and genes with published pharmacogenomic practice guidance by the Clinical Pharmacogenetics Implementation Consortium or other professional organizations, where strong FDA guidance has been issued in drug labels, or where peer-reviewed literature strongly suggests that assessment of pharmacogenomic variants may enhance patient care.

 

For additional information regarding pharmacogenomic genes and their associated medications, see Pharmacogenomic Associations Tables in Special Instructions. This resource also includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Samples may contain donor DNA if obtained from patients who received heterologous blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from samples obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient within 6 weeks. For individuals who have received allogeneic hematopoietic stem cell transplantation, a pretransplant DNA specimen is recommended for testing.

 

Genetic test results in patients who have undergone liver transplantation may not accurately reflect the patient's genetic status for the genes on this panel.

 

This test is not designed to provide specific dosing recommendations and is to be used as an aid to clinical decision making only. Drug-label guidance should be used when dosing patients with medications regardless of the predicted phenotype.

 

For additional information, see the following test IDs:

1A2V / Cytochrome P450 1A2 Genotype, Varies

2C9GV / Cytochrome P450 2C9 Genotype, Varies

2C19V / Cytochrome P450 2C19 Genotype, Varies

2D6CV / Cytochrome P450 2D6 (CYP2D6) Comprehensive Cascade, Varies

3A4V / Cytochrome P450 3A4 Genotype, Varies

3A5V / CYP3A5 Genotype, Varies

CARPB / Carbamazepine Hypersensitivity Pharmacogenomics, Blood

COMTV / Catechol-O-Methyltransferase (COMT) Genotype, Varies

HTR2V / Serotonin Receptor Genotype (HTR2A and HTR2C), Varies

HTT / Serotonin Transporter Genotype, Blood

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Pharmacogene Variation Consortium database. Accessed September 2018. Available at https://www.pharmvar.org/

2. Clinical Pharmacogenetics Implementation Consortium website. Accessed September 2018. Available at https://cpicpgx.org/

3. DAILYMED. U.S National Library of Medicine listing of FDA approved drug labels. Accessed September 2018. Available at: https://dailymed.nlm.nih.gov/dailymed/index.cfm

4. Hicks JK, Sangkuhl K, Swen JJ, et al: Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update. Clin Pharmacol Ther 2017 Jul;102(1):37-44

5. Bradley P, Shiekh M, Mehra V, et al: Improved efficacy with targeted pharmacogenetic-guided treatment of patients with depression and anxiety: A randomized clinical trial demonstrating clinical utility. J Psychiatr Res 2018;96:100-107

6. Brennan FX, Gardner KR, Lombard J, et al: A Naturalistic Study of the Effectiveness of Pharmacogenetic Testing to Guide Treatment in Psychiatric Patients With Mood and Anxiety Disorders. Prim Care Companion CNS Disord 2015 April 16;17(2)

7. Perez V, Salavert A, Espadaler J, et al: Efficacy of prospective pharmacogenetic testing in the treatment of major depressive disorder: results of a randomized, double-blind clinical trial. BMC Psychiatry 2017 Jul 14;17:250

8. Reynolds GP, McGowan OO, Dalton CF: Pharmacogenomics in psychiatry: the relevance of receptor and transporter polymorphisms. Br J Clin Pharmacol 2013;77(4):654-672

Special Instructions Library of PDFs including pertinent information and forms related to the test