Single Gene test: DPYD
| Test Information | |
|---|---|
| Test Name | Single Gene test: DPYD |
| Lab (Location) | Sunnybrook Health Sciences Centre |
| Category | Pharmacogenetics |
| Subcategory | Dihydropyrimidine dehydrogenase deficiency (DPYD) |
| Gene/Platform/Region List | DPYD (c.1129-5923C>G), DPYD (c.1679T>G (p.I560S)), DPYD (c.1905+1G>A), DPYD (c.2846A>T (p.D949V)), DPYD (c.557A>G (p.Y186C)) |
| Test type | Targeted Variant |
| Samples Accepted | Blood |
| Indications Diagnosis | Pharmacogenetics |
| Test Methodology | PCR |
| Methodology Notes | Multiplexed; Targeted Mutation |
| Diseases/Conditions | Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria |