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Test ID: PGXQP Focused Pharmacogenomics Panel, Varies


Specimen Required


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 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: 1 Swab

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 2D6 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. Include concentration and volume on tube.

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


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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Neurology Specialty Testing Client Test Request (T732)

-Therapeutics Test Request (T831)

Useful For

Preemptive or reactive genotyping of patients for pharmacogenomic purposes

 

Providing an assessment for genes with strong drug-gene associations

Testing Algorithm

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.

Method Name

Real Time Polymerase Chain Reaction (RT-PCR) with Allelic Discrimination Analysis/PCR followed by DNA Sequencing, when appropriate

Reporting Name

Focused Pharmacogenomics Panel, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Saliva: 1 swab

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

This panel provides a comprehensive analysis for multiple genes with strong drug phenotype associations. Each sample is tested for specific variations with known functional impact. Pharmacogenomic data for the following specific variants are reviewed and reported (if present):

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

-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

-CYP4F2 *3

-rs12777823G>A

-SLCO1B1 rs4149056 variant found in the *5, *15, and *17 alleles, and rs4149015 found in the *17 and *21 alleles

-VKORC1 c. -1639G>A, c.85G>T, c.106G>T, c.121G>T, c.134T>C, c.172A>G, c.196G>A, c.358C>T, and c.383T>G

 

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

An interpretive report will be provided.

Interpretation

An interpretive report will be provided, which focuses on only drugs and genes with published pharmacogenomic practice guidance by the Clinical Pharmacogenetics Implementation Consortium, other professional organizations or where strong FDA guidance has been issued in drug labels.

 

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

Clinical Reference

1. Ji Y, Skierka JM, Blommel JH, et al: Preemptive pharmacogenomic testing for precision medicine: A comprehensive analysis of five actionable pharmacogenomic genes using next-generation DNA sequencing and a customized CYP2D6 genotyping cascade. J Mol Diagn. 2016 May;18(3):438-445. doi: 10.1016/j.jmoldx.2016.01.003

2. Samwald M, Xu H, Blagec K, et al: Incidence of exposure of patients in the United States to multiple drugs for which pharmacogenomic guidelines are available. PLoS One. 2016 Oct 20;11(10):e0164972. doi: 10.1371/journal.pone.0164972

3. Clinical Pharmacogenetic Implementation Committee (CPIC): Genes-Drugs. CPIC; Accessed October 14, 2020. Available at  https://cpicpgx.org/genes-drugs/

4. Pharmacogenomics Knowledgebase (PharmGKB). Accessed October 14, 2020. Available at www.pharmgkb.org/

5. 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 Jan 2. doi: 10.1002/cpt.2149. Epub ahead of print

Day(s) Performed

Monday through Friday

Report Available

3 to 14 days

Test Classification

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

0029U

0071U (if appropriate)

0072U (if appropriate)

0073U (if appropriate)

0074U (if appropriate)

0075U (if appropriate)

0076U (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGXQP Focused Pharmacogenomics Panel, V 82118-1

 

Result ID Test Result Name Result LOINC Value
610185 CYP1A2 Genotype 72884-0
610186 CYP1A2 Phenotype 94254-0
610187 CYP2C19 Genotype 57132-3
610188 CYP2C19 Phenotype 79714-2
610570 CYP2C19 Activity Score In Process
610189 CYP2C9 Genotype 46724-1
610190 CYP2C9 Phenotype 79716-7
610571 CYP2C9 Activity Score In Process
610191 CYP2D6 Genotype 40425-1
610192 CYP2D6 Phenotype 79715-9
610572 CYP2D6 Activity Score In Process
610193 CYP3A4 Genotype 81139-8
610194 CYP3A4 Phenotype 81145-5
610195 CYP3A5 Genotype 81140-6
610196 CYP3A5 Phenotype 79717-5
610197 SLCO1B1 Genotype 93412-5
610198 SLCO1B1 Phenotype 79722-5
610199 Warfarin CYP2C9 Genotype 46724-1
610201 Warfarin VKORC1 Resistance Genotype 50722-8
610200 Warfarin VKORC1 Promoter Genotype 50722-8
614000 Warfarin CYP2C9 and VKORC1 Promoter Phenotype 54451-0
610202 Warfarin CYP4F2 *3 Genotype 93197-2
610203 Warfarin rs12777823 Genotype 93198-0
610204 Interpretation 69047-9
610205 Additional Information 48767-8
610206 Method 85069-3
610207 Disclaimer 62364-5
610208 Reviewed by 18771-6

Reflex 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
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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