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DPYD Genotyping

Test Information

Title
DPYD Genotyping
Category
Pharmacogenetics
Test Name (CMS Title)
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Gene/Platform/Region List

DPYD

Test type
Targeted Variant
Samples Accepted
Blood
Indications
Pharmacogenetics
Test Methodology
PCR
Methodology Notes

Targeted Mutation: c.1905+1 G>A, c.2846 A>T, c.1679 T>G, c.1129-5923 C>G, c.1236 G>A only

Disease/Condition

Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

Last Updated: December 09, 2025