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Test ID: PGXFP Focused Pharmacogenomics Panel


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.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Saliva

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

Supplies: DNA Saliva Collection Kit (T786)

Container/Tube: Saliva Swab Collection Kit (T786: fees apply)

Specimen Volume: 1 swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient

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 Type: 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. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

--Neurology Specialty Testing Client Test Request Form (T732)

--Pharmacogenomics Test Request Form (T797)

--Cardiovascular Test Request Form (T724)

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 with Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis when appropriate

Reporting Name

Focused Pharmacogenomics Panel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Saliva: 1 swab

Specimen Stability Information

Specimen Type Temperature Time
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, *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

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 that 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

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

3. Clinical Pharmacogenetic Implementation Committee Gene-Drug Table. Accessed 5/4/2017. Available at https://cpicpgx.org/genes-drugs/

4. Pharmacogenomics Knowledgebase (PharmGKB). Accessed 5/4/2017. Available at www.pharmgkb.org/

Day(s) and Time(s) Performed

Monday through Friday; 8 a.m.

Analytic Time

3 days (not reported Saturday or Sunday)

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 U.S. Food and Drug Administration.

CPT Code Information

0029U

 

2D6S1-2D6S6 reflex tests

0071U-0076U (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGXFP Focused Pharmacogenomics Panel 82118-1

 

Result ID Test Result Name Result LOINC Value
BA0902 Medications 52418-1
BA0903 Amitriptyline 69047-9
BA0904 Aripiprazole 69047-9
BA0905 Atomoxetine 69047-9
BA0906 Atorvastatin 69047-9
BA0914 Brexpiprazole 69047-9
BA0907 Carvedilol 69047-9
BA0915 Carisoprodol 69047-9
BA0908 Celecoxib 69047-9
BA0909 Citalopram 69047-9
BA0152 Clobazam 69047-9
BA0910 Clomipramine 69047-9
BA0911 Clopidogrel 69047-9
BA0912 Codeine 69047-9
BA0913 Desipramine 69047-9
BA0263 Dexlansoprazole 69047-9
BA0235 Dextromethorphan 69047-9
BA0916 Diclofenac 69047-9
BA0917 Doxepin 69047-9
BA0233 Eliglustat 69047-9
BA0918 Escitalopram 69047-9
BA0919 Esomeprazole 69047-9
BA0244 Flecainide 69047-9
BA0920 Fluoxetine 69047-9
BA0921 Fluvoxamine 69047-9
BA0922 Fosphenytoin 69047-9
BA0245 Haloperidol 69047-9
BA1630 Iloperidone 69047-9
BA0923 Imipramine 69047-9
BA0924 Lansoprazole 69047-9
BA0925 Metoprolol 69047-9
BA0926 Nortriptyline 69047-9
BA0927 Omeprazole 69047-9
BA0928 Ondansetron 69047-9
BA0929 Oxycodone 69047-9
BA0930 Pantoprazole 69047-9
BA0931 Paroxetine 69047-9
BA1631 Perphenazine 69047-9
BA0932 Phenytoin 69047-9
BA1632 Pimozide 69047-9
BA0933 Pravastatin 69047-9
BA1633 Propafenone 69047-9
BA1634 Risperidone 69047-9
BA0934 Rosuvastatin 69047-9
BA0935 Sertraline 69047-9
BA0936 Simvastatin 69047-9
BA0937 Sirolimus 69047-9
BA0938 Tacrolimus 69047-9
BA0939 Tamoxifen 69047-9
BA0940 Tamsulosin 69047-9
BA1635 Tetrabenazine 69047-9
BA1636 Thioridazine 69047-9
BA0941 Tramadol 69047-9
BA0942 Trimipramine 69047-9
BA0943 Tropisetron 69047-9
BA0944 Venlafaxine 69047-9
BA0945 Voriconazole 69047-9
BA0946 Warfarin 69047-9
BA0947 Other Medications 30964-1
BA0261 CYP1A2 Genotype 72884-0
BA0262 CYP1A2 Phenotype In Process
BA0258 CYP2C19 Genotype In Process
BA0259 CYP2C19 Phenotype 79714-2
BA0264 CYP2C9 Genotype In Process
BA0265 CYP2C9 Phenotype 79716-7
BA0255 CYP2D6 Genotype In Process
BA0256 CYP2D6 Phenotype 79715-9
BA0252 CYP3A4 Genotype 81139-8
BA0253 CYP3A4 Phenotype 53040-2
BA0249 CYP3A5 Genotype In Process
BA0250 CYP3A5 Phenotype 79717-5
BA0246 SLCO1B1 Genotype In Process
BA0247 SLCO1B1 Phenotype 79722-5
BA0228 WARF CYP2C9 Genotype In Process
BA0229 WARF VKORC1 Genotype In Process
BA0150 Additional VKORC1 Variants 82939-0
BA0230 CYP4F2 *3 Genotype In Process
BA0231 rs12777823 Genotype In Process
BA0151 Interpretation 69047-9
BA0267 Additional Information 48767-8
BA0268 Method 49549-9
BA0269 Disclaimer 62364-5
BA0270 Reviewed by 18771-6
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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