Test Directory

• DPYD Genotype
• DPYD Metabolic Activity
• DPYD Information

The DPYD genotyping test is intended to assist health care professionals in treatment management by identifying the most common clinically relevant DPYD variants associated with reduced DPD enzyme activity. Identifying these variants can help assess a patient’s risk for severe toxicity from fluoropyrimidine therapies and support appropriate dose adjustments or alternative treatment decisions in line with professional guidelines.

Specimen Type: Whole Blood

Preferred Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 1mL

Invert tube 8 - 10 times immediately after tube is filled at the time of collection.

Transport to the laboratory at room temperature. 

• Any specimen with leakage on the outside of the container will be rejected. Ensure the lid is tightly closed.
• Any specimen shared with another laboratory test will be rejected.
• Any specimen collected in an outdated collection tube will be rejected.

The DPYD genotyping test includes analysis of 18 variants in the DPYD gene: rs112766203 (c.2279C>T), rs115232898 (c.557A>G), rs146356975 (c.868A>G), rs1801266 (c.703C>T, DPYD *8), rs183385770 (c.1024G>A), rs186169810 (c.1314T>G), rs3918290 (c.1905+1G>A, DPYD *2A), rs55674432 (c.2639G>T), rs55886062 (c.1679T>G, DPYD *13), rs56038477 (c.1236G>A; HapB3), rs59086055 (c.1774C>T), rs67376798 (c.2846A>T), rs72549304 (c.1475C>T or A), rs72549309 (c.299_302delTCAT, DPYD *7), rs72549310 (c.61C>T), rs75017182 (c.1129-5923C>G; HapB3), rs755416212 (c.704G>A), and rs773499329 (c.2043_2058del). Variants not listed above will not be detected by this assay. A negative result does not exclude the presence of other DPYD variants or variants in other genes involved in drug metabolism pathways.

• Capecitabine
• Dihydropyrimidine dehydrogenase deficiency
• DPD
• DPYD
• DPYD deficiency
• DPYD genotyping
• Fegafur
• Fluoropyrimidine
• Sensitivity to fluorouracil toxicity
• 5FU drug toxicity
• Uftoral
• Xeloda
• 5-Fluorouracil (5-FU)

The DPYD genotyping assay analyzes the following 18 variants in the DPYD gene: rs112766203 (c.2279C>T), rs115232898 (c.557A>G), rs146356975 (c.868A>G), rs1801266 (c.703C>T; *8), rs183385770 (c.1024G>A), rs186169810 (c.1314T>G), rs3918290 (c.1905+1G>A; *2A), rs55674432 (c.2639G>T), rs55886062 (c.1679T>G; *13), rs56038477 (c.1236G>A; HapB3), rs59086055 (c.1774C>T), rs67376798 (c.2846A>T), rs72549304 (c.1475C>T or A), rs72549309 (c.299_302delTCAT; *7), rs72549310 (c.61C>T), rs75017182 (c.1129-5923C>G; HapB3), rs755416212 (c.704G>A), and rs773499329 (c.2043_2058del). These variants include all AMP Tier 1 and Tier 2 DPYD markers, along with additional variants to expand pharmacogenomic coverage. Variants not listed above will not be detected by this assay. Results should be interpreted by the patient’s health care provider in the context of the patient’s clinical history and treatment plan.