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
|