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HelpTest ID: PGXFP 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.
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
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. 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)
-Neurology Specialty Testing Client Test Request (T732)
-Pharmacogenomics Test Request (T797)
-Cardiovascular Test Request (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.
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 PanelSpecimen Type
VariesSpecimen 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 | 83010-9 |
| BA0904 | Aripiprazole | 83010-9 |
| BA0905 | Atomoxetine | 83010-9 |
| BA0906 | Atorvastatin | 83010-9 |
| BA0914 | Brexpiprazole | 83010-9 |
| BA0907 | Carvedilol | 83010-9 |
| BA0915 | Carisoprodol | 83010-9 |
| BA0908 | Celecoxib | 83010-9 |
| BA0909 | Citalopram | 83010-9 |
| BA0152 | Clobazam | 69047-9 |
| BA0910 | Clomipramine | 83010-9 |
| BA0911 | Clopidogrel | 83010-9 |
| BA0912 | Codeine | 83010-9 |
| BA0913 | Desipramine | 83010-9 |
| BA0263 | Dexlansoprazole | 69047-9 |
| BA0235 | Dextromethorphan | 69047-9 |
| BA0916 | Diclofenac | 83010-9 |
| BA0917 | Doxepin | 83010-9 |
| BA0233 | Eliglustat | 69047-9 |
| BA0918 | Escitalopram | 83010-9 |
| BA0919 | Esomeprazole | 83010-9 |
| BA0244 | Flecainide | 69047-9 |
| BA0920 | Fluoxetine | 83010-9 |
| BA0921 | Fluvoxamine | 83010-9 |
| BA0922 | Fosphenytoin | 83010-9 |
| BA0245 | Haloperidol | 69047-9 |
| BA1630 | Iloperidone | 83010-9 |
| BA0923 | Imipramine | 83010-9 |
| BA0924 | Lansoprazole | 83010-9 |
| BA0925 | Metoprolol | 83010-9 |
| BA0926 | Nortriptyline | 83010-9 |
| BA0927 | Omeprazole | 83010-9 |
| BA0928 | Ondansetron | 83010-9 |
| BA0929 | Oxycodone | 83010-9 |
| BA0930 | Pantoprazole | 83010-9 |
| BA0931 | Paroxetine | 83010-9 |
| BA1631 | Perphenazine | 83010-9 |
| BA0932 | Phenytoin | 83010-9 |
| BA1632 | Pimozide | 83010-9 |
| BA0933 | Pravastatin | 83010-9 |
| BA1633 | Propafenone | 83010-9 |
| BA1634 | Risperidone | 83010-9 |
| BA0934 | Rosuvastatin | 83010-9 |
| BA0935 | Sertraline | 83010-9 |
| BA0936 | Simvastatin | 83010-9 |
| BA0937 | Sirolimus | 83010-9 |
| BA0938 | Tacrolimus | 83010-9 |
| BA0939 | Tamoxifen | 83010-9 |
| BA0940 | Tamsulosin | 83010-9 |
| BA1635 | Tetrabenazine | 83010-9 |
| BA1636 | Thioridazine | 83010-9 |
| BA0941 | Tramadol | 83010-9 |
| BA0942 | Trimipramine | 83010-9 |
| BA0943 | Tropisetron | 83010-9 |
| BA0944 | Venlafaxine | 83010-9 |
| BA0945 | Voriconazole | 83010-9 |
| BA0946 | Warfarin | 83010-9 |
| BA0947 | Other Medications | 30964-1 |
| BA0261 | CYP1A2 Genotype | 72884-0 |
| BA0262 | CYP1A2 Phenotype | In Process |
| BA0258 | CYP2C19 Genotype | 57132-3 |
| BA0259 | CYP2C19 Phenotype | 79714-2 |
| BA0264 | CYP2C9 Genotype | 46724-1 |
| BA0265 | CYP2C9 Phenotype | 79716-7 |
| BA0255 | CYP2D6 Genotype | 40425-1 |
| BA0256 | CYP2D6 Phenotype | 79715-9 |
| BA0252 | CYP3A4 Genotype | 81139-8 |
| BA0253 | CYP3A4 Phenotype | 53040-2 |
| BA0249 | CYP3A5 Genotype | 81140-6 |
| BA0250 | CYP3A5 Phenotype | 79717-5 |
| BA0246 | SLCO1B1 Genotype | 93412-5 |
| BA0247 | SLCO1B1 Phenotype | 79722-5 |
| BA0228 | WARF CYP2C9 Genotype | 46724-1 |
| BA0229 | WARF VKORC1 Genotype | 72512-7 |
| BA0150 | Additional VKORC1 Variants | 82939-0 |
| BA0230 | CYP4F2 *3 Genotype | 93197-2 |
| BA0231 | rs12777823 Genotype | 93198-0 |
| BA0151 | Interpretation | 69047-9 |
| BA0267 | Additional Information | 48767-8 |
| BA0268 | Method | 49549-9 |
| BA0269 | Disclaimer | 62364-5 |
| BA0270 | Reviewed by | 18771-6 |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| 2D6S1 | CYP2D6 FULL GENE SEQUENCE | No, (Bill Only) | No |
| 2D6S2 | CYP2D6 GEN CYP2D6-2D7 HYBRID | No, (Bill Only) | No |
| 2D6S3 | CYP2D6 GEN CYP2D7-2D6 HYBRID | No, (Bill Only) | No |
| 2D6S4 | CYP2D6 NONDUPLICATED GENE | No, (Bill Only) | No |
| 2D6S5 | CYP2D6 5' GENE DUP/MLT | No, (Bill Only) | No |
| 2D6S6 | CYP2D6 3' GENE DUP/MLT | No, (Bill Only) | No |
mml-pgx