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Test Code DPYDQ Dihydropyrimidine Dehydrogenase Genotype, Varies


Ordering Guidance


This test does not detect or report variants other than the *2A, *7, *8, *10, *13, rs67376798, rs75017182, and rs115232898 alleles. Sequencing of the full gene is available for detection of additional variants as well as the alleles listed: order DPYDZ / Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, 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


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 a Therapeutics Test Request (T831) with the specimen.

Useful For

Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment

Method Name

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

Reporting Name

DPYD Genotype, V

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

DPYD Phenotype: Normal metabolizer

DPYD Activity Score: 2.00

DPYD Genotype: No variants were detected in the DPYD gene.

 

An interpretive report will be provided.

Interpretation

An interpretive report will be provided.

 

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.

Day(s) Performed

Monday through Friday

Report Available

3 to 10 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81232

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DPYDQ DPYD Genotype, V 93199-8

 

Result ID Test Result Name Result LOINC Value
610138 DPYD Phenotype 79719-1
610139 DPYD Activity Score 104665-5
613999 DPYD Genotype 45284-7
610140 Interpretation 69047-9
610141 Additional Information 48767-8
610142 Method 85069-3
610143 Disclaimer 62364-5
610144 Reviewed by 18771-6