1. Genetic tests
  2. Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)

Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)

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Full name:
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
Description:

Using Sanger sequencing and/or SALSA MLPA, the presence of the following four variants in the DPYD gene is investigated: - c.1236G>A (rs56038477) or c.1129-5923C>G (rs75017182) - c.1905+1G>A (rs3918290) - c.1679T>G (rs55886062) - c.2846A>T (rs67376798) The c.1236 G>A variant is in linkage disequilibrium with the c.1129-5923C>G variant.
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Therapeutic Management
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
Bi-directional Sanger Sequence analysis
MLPA based techniques
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565390-565401
EQA:
  • 2021 Dihydropyrimidine dehydrogenase deficiency GenQA (Genomics Quality Assessment)
  • 2022 Dihydropyrimidine dehydrogenase deficiency GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-07-08 / 2026-02-02
Turnaround time (maximum):
7 calendar days
Document(s):
Created:
23 Dec 2019 - 12:24
Changed:
01 Mar 2023 - 14:47
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/12619