DPYD Genotyping

Test Information
Test Name DPYD Genotyping
Lab (Location) Kingston General Hospital
Category Pharmacogenetics
Subcategory Dihydropyrimidine dehydrogenase deficiency (DPYD)
Gene/Platform/Region List DPYD
Test type Targeted Variant
Samples Accepted Blood
Indications Diagnosis 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
Diseases/Conditions Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria