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Test Code 2C9QT Cytochrome P450 2C9 Genotype, Varies

Reporting Name

CYP2C9 Genotype, V

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9

Method Name

Real-Time Polymerase Chain Reaction (PCR) with Allelic Discrimination Analysis


Ordering Guidance


If patient is or will be using warfarin, the preferred test is WARSQ / Warfarin Response Genotype, Varies, which includes testing of CYP2C9, VKORC1, CYP4A2, and rs12777823.

 

Testing is available as the single gene assay (this test) or as a part of a focused pharmacogenomics panel, which includes testing for the following genes: CYPs 1A2, 2C9, 2C19, 2D6, 3A4, 3A5, 4F2, SLCO1B1, and VKORC1.

 

If multiple pharmacogenomic genotype testing is needed, order PGXQP / Focused Pharmacogenomics Panel, Varies.



Specimen Required


Multiple genotype tests can be performed on a single specimen after a single extraction. See Multiple Genotype Test List for a list of tests that can be ordered together.

 

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: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

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)/Ambient/Refrigerated


Specimen Type

Varies

Specimen Minimum Volume

Blood: 0.4 mL
Saliva, extracted DNA: see Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

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

Reference Values

An interpretive report will be provided.

Interpretation

An interpretive report will be provided.

 

The genotype, with associated star alleles, is assigned using standard allelic nomenclature as published by the Pharmacogene Variation (PharmVar) Consortium.(1)

 

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

 

Drug-drug interactions and drug/metabolite inhibition must be considered in the case of all metabolizer categories except poor metabolizer.

 

It is important to interpret the results of testing and dose adjustments in the context of hepatic and renal function and patient age.

Day(s) Performed

Monday through Friday

Report Available

3 to 8 days

Test Classification

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

CPT Code Information

81227

LOINC Code Information

Test ID Test Order Name Order LOINC Value
2C9QT CYP2C9 Genotype, V 46724-1

 

Result ID Test Result Name Result LOINC Value
610096 CYP2C9 Genotype 46724-1
610097 CYP2C9 Phenotype 79716-7
610568 CYP2C9 Activity Score 104668-9
610098 Interpretation 69047-9
610099 Additional Information 48767-8
610100 Method 85069-3
610101 Disclaimer 62364-5
610102 Reviewed by 18771-6

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. 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)