Test Catalog

Test Id : PSYQP

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 (SSRI)

 

Evaluating patients with treatment-resistant depression

 

Predicting response time to improvement with SSRI

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 polymerase chain reaction (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, *14, *15, and *114. 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.

 

Prior Authorization is available for this assay.

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
2D61Z CYP2D6 Full Gene Sequence No, (Bill Only) No
2D62Z CYP2D6 GEN CYP2D6-2D7 Hybrid No, (Bill Only) No
2D63Z CYP2D6 GEN CYP2D7-2D6 Hybrid No, (Bill Only) No
2D64Z CYP2D6 Nonduplicated Gene No, (Bill Only) No
2D65Z CYP2D6 5' Gene DUP/MLT No, (Bill Only) No
2D66Z CYP2D6 3' Gene DUP/MLT No, (Bill Only) No

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.

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

Method Name
A short description of the method used to perform the test

Real-Time Polymerase Chain Reaction (RT-PCR) with Allelic Discrimination Analysis/Qualitative Allele-Specific RT-PCR/PCR followed by Sizing Analysis

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Psychotropic PGx Panel, V

Aliases
Lists additional common names for a test, as an aid in searching

ADRA2

ANKK1

Antianxiety panel

Antidepressant failure

Antidepressant panel

Antipsychotic panel

CHRNA3

COMT

CYP1A2

CYP2B6

CYP2C19

CYP2C9

CYP2D6

CYP3A4

CYP3A5

Cytochrome P450

Depression panel

DRD2

EPHX1

Gene Panel

GRIK4

HLA-A*31:01

HLA-B*15:02

HTR2A

HTR2C

Mood stabilizer panel

MTHFR

OPRM1

P450 Genotype

P450 Genotyping

PGx

PGx Panel

Pharmacogenetic panel

Pre-emptive genotyping

Psychiatric Pharmacogenomic Panel

Psychiatry Pharmacogenomic Panel

Psychotropic Pharmacogenetic Panel

SCN1A

Selection of right medication

SLC6A4 (5-HTT)

UGT2B15

1A2

2B6

286

2C19

2C9

2D6

3A4

3A5

HLAA 3101

HLAB 1502

B1502

A3101

HLAA3101

HLAB1502

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.

Specimen Type
Describes the specimen type validated for testing

Varies

Necessary Information

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Prior Authorization is available for this test. Submit the required form with the specimen.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 2 Swabs, use 2 kits for collection

Collection Instructions: Collect and send specimen per kit instructions.

Additional Information: Due to lower concentration of DNA yielded from saliva, testing cannot proceed to reflex testing for CYP2D6 sequencing and will stop after initial testing is complete.

Specimen Stability Information: Ambient 30 days

 

Specimen Type: Extracted DNA

Container/Tube: 2-mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.

2. Provide concentration of DNA and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated

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

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Psychotropic Pharmacogenomics Gene Panel Prior Authorization Ordering Instructions is required.

3. If not ordering electronically, complete, print, and send a Therapeutics Test Request (T831) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood: 1 mL

Saliva, extracted DNA: see Specimen Required

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies (preferred)

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 (SSRI)

 

Evaluating patients with treatment-resistant depression

 

Predicting response time to improvement with SSRI

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 polymerase chain reaction (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, *14, *15, and *114. 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.

 

Prior Authorization is available for this assay.

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.

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 (also known as *18.002), *18, *19, *20, *22, , *26, *27, , *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 (now known as *114), *14B (now known as *14),*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,(1-3) where strong FDA guidance has been issued in drug labels,(4) or where peer-reviewed literature strongly suggests that assessment of pharmacogenomic variants may enhance patient care.(5-8)

 

For additional information regarding pharmacogenomic genes and their associated medications, see Pharmacogenomic Associations Tables. 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 non-leukoreduced 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 tests:

-1A2Q / Cytochrome P450 1A2 Genotype, Varies

-2C9QT / Cytochrome P450 2C9 Genotype, Varies

-2C19R / Cytochrome P450 2C19 Genotype, Varies

-2D6Q / Cytochrome P450 2D6 Comprehensive Cascade, Varies

-3A4Q / Cytochrome P450 3A4 Genotype, Varies

-3A5Q / CYP3A5 Genotype, Varies

-CARBR / Carbamazepine Hypersensitivity Pharmacogenomics, Varies

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

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

1. PharmVar: Pharmacogene Variation Consortium. Updated Mach 3, 2021. Accessed March 22, 2021. Available at www.pharmvar.org/

2. Clinical Pharmacogenetics Implementation Consortium (CPIC). Accessed October 14, 2020. Available at https://cpicpgx.org/

3. 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;102(1):37-44. doi: 10.1002/cpt.597

4. U.S National Library of Medicine: DailyMed. National Institutes of Health. Accessed October 14, 2020. Available at https://dailymed.nlm.nih.gov/dailymed/index.cfm

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). doi: 10.4088/PCC.14m01717

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(1):250

8. Reynolds GP, McGowan OO, Dalton CF: Pharmacogenomics in psychiatry: the relevance of receptor and transporter polymorphisms. Br J Clin Pharmacol. 2014 Apr;77(4):654-672

9. Crews KR, Monte AA, Huddart R, et al: Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy. Clin Pharmacol Ther. 2021 Oct;110(4):888-896. doi: 10.1002/cpt.2149

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

Method Description
Describes how the test is performed and provides a method-specific reference

Genomic DNA is extracted from the sample.

 

Genotyping for the following genes is performed using a polymerase chain reaction (PCR)-based 5'-nuclease assay. Fluorescently labeled detection probes anneal to the target DNA: ANKK1, ADRA2, CHRNA3, COMT, CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, DRD2, EPHX1, GRIK4, HTR2A, HTR2C, MTHFR, OPRM1, SCN1A, and UGT2B15. PCR is used to amplify the section of DNA that contains the variant. If the detection probe is an exact match to the target DNA, the 5'-nuclease polymerase degrades the probe, the reporter dye is released from the effects of the quencher dye, and a fluorescent signal is detected. Genotypes are assigned based on the allele-specific fluorescent signals that are detected.(Instruction manual: TaqMan SNP Genotyping Assay User Guide. Applied Biosystems; Revision A.0, 01/2014)

 

Amplification for the HLA-B*15:02 and HLA-A*31:01 alleles and an internal control gene is performed by real-time PCR in the presence of SYBR Green, which fluoresces when bound to double-stranded DNA. A genotype is assigned based on the allele-specific SYBR Green fluorescent signals that are detected.(Unpublished Mayo method)

 

SLC6A4 is performed utilizing PCR amplification of the region surrounding the polymorphism followed by size separation of the products.(Lesch KP, Bengel D, Heils A, et al: Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science. 1996 Nov;274[5292]:1527-1531)

 

CYP2D6 Copy Number Assay:

This assay utilizes a duplex real-time PCR, which includes 1 copy number probe and a reference assay per reaction. Each copy number probe detects the genomic sequence of interest and the reference assay detects a sequence that is known to be present in 2 copies in a diploid genome. Relative quantitation is used to determine the relative copy number of the target of interest in a genomic DNA (gDNA) sample normalized to10 ng/mcL for each probe. Each probe is normalized to the known copy number of the reference sequence, and compared to a calibrator sample with known copies of the target sequence included with each run.(Package insert: Taqman Copy Number Assays. Applied Biosystems; Revision B)

 

2D6 Sequencing Assays (Tier 2, as needed):

The CYP2D6 allele of interest is amplified by PCR. The PCR product is then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in the exons and intron/exon boundaries of all 9 exons using mutation detection software and visual inspection.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

Supplemental RE

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Thursday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 14 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole blood/Saliva: 2 weeks; Extracted DNA: 2 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81479

81226

81225

81227

81230

81231

81291

81381 x 2

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
PSYQP Psychotropic PGx Panel, V 94753-1
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
610209 ADRA2A rs1800544 Genotype 94401-7
610210 ANKK1 rs1800497 Genotype 94402-5
610211 CHRNA3 rs1051730 Genotype 94403-3
610212 COMT rs4680 Genotype 74511-7
610213 CYP1A2 Genotype 72884-0
610214 CYP1A2 Phenotype 94254-0
610215 CYP2B6 Genotype 72882-4
610216 CYP2B6 Phenotype 79720-9
610573 CYP2B6 Activity Score In Process
610217 CYP2C19 Genotype 57132-3
610218 CYP2C19 Phenotype 79714-2
610574 CYP2C19 Activity Score In Process
610219 CYP2C9 Genotype 46724-1
610220 CYP2C9 Phenotype 79716-7
610575 CYP2C9 Activity Score In Process
610221 CYP2D6 Genotype 40425-1
610222 CYP2D6 Phenotype 79715-9
610576 CYP2D6 Activity Score In Process
610227 DRD2 rs1799978 Genotype 94411-6
610228 EPHX1 rs2234922 Genotype 94412-4
610229 GRIK4 rs1954787 Genotype 94413-2
610230 HLA-A*31:01 Genotype 79712-6
610231 HLA-B*15:02 Genotype 57979-7
610232 HTR2A rs7997012 Genotype 93190-7
610233 HTR2C rs3813929 Genotype 93191-5
610234 HTR2C rs1414334 Genotype 93192-3
610235 MTHFR Genotype 94414-0
610236 OPRM1 rs1799971 Genotype 94415-7
610237 SCN1A rs3812718 Genotype 94416-5
610238 SLC6A4 5HTTLPR Genotype 94417-3
610239 UGT2B15 rs1902023 Genotype 94418-1
610240 Interpretation 69047-9
610241 Additional Information 48767-8
610242 Method 85069-3
610243 Disclaimer 62364-5
610244 Reviewed by 18771-6
610223 CYP3A4 Genotype 81139-8
610224 CYP3A4 Phenotype 81145-5
610225 CYP3A5 Genotype 81140-6
610226 CYP3A5 Phenotype 79717-5

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

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Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports