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Dihydropyrimidine Dehydrogenase Deficiency via the DPYD Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
DPYD 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4389DPYD81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Dihydropyrimidine dehydrogenase (DPD) deficiency (also termed hereditary thymine-uraciluria; OMIM# 274270) is an inherited error in pyrimidine metabolism with wide phenotypic variability from serious mental and physical delays in infancy to no symptoms at all (van Kuilenburg et al. Hum Genet 104(1):1-9, 1999). The neurological symptoms in severely affected patients include microcephaly, recurrent seizures, muscular hypertonia, intellectual disability, delayed development of motor skills, and autism.

Irrespective of manifestation of symptoms, DPD-deficient patients are vulnerable to a potentially life-threatening toxic reaction to the fluoropyrimidine type of anti-cancer agents such as 5-fluorouracil (5-FU) (Tuchman et al. N Engl J Med 313(4):245-249, 1985; Milano et al. Br J Cancer 79(3-4):627-630, 1999). DPD is the rate-limiting enzyme of 5-FU catabolism and as such, a partial or complete DPD deficiency results in 5-FU toxicity (OMIM# 274270). Symptoms included stomatitis, leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma. Although DPD deficiency is inherited in an autosomal recessive manner, 5-FU toxicity has been widely found in individuals with one mutated allele of the DPYD gene. DPD deficiency accounts for 50-75% of 5-FU associated toxicities (Ciccolini et al. Clin Colorectal Cancer 9(4):224-228, 2010). Since genotype-phenotype correlations are yet unclear, routine DPD testing to anticipate 5-FU associated toxicities is still lacking in consensus (Ciccolini et al., 2010; van Kuilenburg et al. Cancer Invest 24(2):215-217, 2006; Yen et al. Eur J Cancer 43(6):1011-1016, 2007). Therefore, this testing is NOT for complete risk evaluation of DPYD-associated fluoropyrimidine toxicities.


DPD deficiency is an autosomal recessive disorder caused by mutations in the DPYD gene, which has 23 coding exons that encode dihydropyrimidine dehydrogenase (Cremers et al. Am J Hum Genet 47(4): 622–628, 1990). Over half of all DPYD defects are missense mutations (Human Gene Mutation Database). Partial and whole gene deletions are common, accounting for approximately 20% of documented DPYD mutations. Other genetic aberrations include nonsense, splicing mutations and small deletions. DPYD mutations are spread over the whole coding region randomly and no apparent mutational hot spots have been indicated.

Clinical Sensitivity - Sequencing with CNV PG-Select

Since partial and whole gene deletions account for approximately 20% of documented DPYD mutations, the overall DPYD mutation detection rate via DNA sequencing is estimated to be about 80% (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the DPYD gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

This test also includes targeted testing of the deep intronic splicing mutation c.1129-5923C>G (van Kuilenburg et al. Hum Genet 128(5):529-538, 2010).

Indications for Test

Candidates for this test are patients with dihydropyrimidine dehydrogenase deficiency. Testing is also indicated for family members of patients who have known DPYD mutations. It should be noted that this testing is NOT for complete risk evaluation of DPYD-associated fluoropyrimidine toxicities. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DPYD.


Official Gene Symbol OMIM ID
DPYD 612779
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Dihydropyrimidine Dehydrogenase Deficiency AR 274270


  • Ciccolini J, Gross E, Dahan L, Lacarelle B, Mercier C. 2010. Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope? Clin Colorectal Cancer 9: 224–228. PubMed ID: 20920994
  • Cremers, F. et al. (1990). “Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.” Am J Hum Genet 47(4): 622-628. PubMed ID: 2220804
  • Human Gene Mutation Database (Bio-base).
  • Milano, G et al. (1999) “Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity.” Br J Cancer. 79(3-4):627-30. PubMed ID: 10027340
  • Tuchman, M et al. (1985) "Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity." N Engl J Med. 313(4):245-9. PubMed ID: 2989687
  • van Kuilenburg ABP. 2006. Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that’s the question. Cancer Invest. 24: 215–217. PubMed ID: 16537192
  • van Kuilenburg, A et al. (1999) “Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.” Hum Genet. 104(1):1-9. PubMed ID: 10071185
  • van Kuilenburg, A et al. (2010). "Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity." Hum Genet 128(5):529-538. PubMed ID: 20803296
  • Yen JL, McLeod HL. 2007. Should DPD analysis be required prior to prescribing fluoropyrimidines? Eur. J. Cancer 43: 1011-1016. PubMed ID: 17350823


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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