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Test ID: 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 also available for detection of additional variants as well as the alleles listed: order DPYDG / 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 in Special Instructions 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 specimen in original tube.

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. 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 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: 1 swab

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

5-Fluorouracil (5-FU) and its orally administered prodrug, capecitabine, are fluoropyrimidine-based chemotherapeutic agents that are widely used for the treatment of colorectal cancer and other solid tumors.

 

The dihydropyrimidine dehydrogenase (DPYD) gene encodes the rate-limiting enzyme for fluoropyrimidine catabolism and eliminates over 80% of administered 5-FU. Dihydropyrimidine dehydrogenase (DPYD) activity is subject to wide variability, mainly due to genetic variation. This results in a broad range of enzymatic deficiency from partial (3%-5% of population) to complete loss (0.2% of population) of enzyme activity.(2-5) Patients who are deficient in DPYD are at an increased risk for side effects and toxicity when undergoing 5-FU treatment.(6) In addition, pathogenic homozygous or compound heterozygous variants within DPYD are associated with dihydropyrimidine dehydrogenase (DPD) deficiency. DPD deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation.

 

The following table displays the DPYD variants detected by this assay, the corresponding star allele, and the effect on DPYD enzyme activity. Other or novel variations, besides those listed here, may also impact fluoropyrimidine-related side effects and tumor response.

 

 DPYD allele

cDNA nucleotide change

Effect on enzyme activity

*1

None (wild type)

Normal activity

*2A

1905+1G>A

No activity

*7

299_302delTCAT

No activity

*8

703C>T

No activity

*10

2983G>T

No activity

*13

1679T>G

No activity

rs67376798

2846A>T

Decreased activity

rs75017182

1129-5923C>G

Decreased activity

rs115232898

557A>G

Decreased activity

Reference Values

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 in Special Instructions. This resource also includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.

Clinical Reference

1. OMIM: Dihydropyrimidine dehydrogenase; DPYD. 2009. Updated December 22, 2017.  Accessed October 14, 2020. Available at www.omim.org/entry/612779

2. Amstutz U, Henricks LM, Offer SM, et al: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther. 2018 Feb;103(2):210-216. doi:10.1002/cpt.911

3. Lunenburg CATC, van der Wouden CH, Nijenhuis M, et al: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines. Eur J Hum Genet. 2020 Apr;28(4):508-517. doi: 10.1038/s41431-019-0540-0

4. Morel A, Boisdron-Celle M, Fey L, et al: Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol Cancer Ther. 2006 Nov;5(11):2895-2904. doi: 10.1158/1535-7163.MCT-06-0327

5. Offer SM, Fossum CC, Wegner NJ, Stuflesser AJ, Butterfield GL, Diasio RB: Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res. 2014 May 1;74(9):2545-2554. doi: 10.1158/0008-5472.CAN-13-24826

6. U.S. Food and Drug Administration: Table of Pharmacogenomic Biomarkers in Drug Labeling. FDA; Updated August 18, 2020. Accessed October 14, 2020. Available at www.fda.gov/drugs/scienceresearch/researchareas/pharmacogenetics/ucm083378.htm

Day(s) Performed

Monday through Friday

Report Available

3 to 10 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

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 In Process
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
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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