Eurofins Biomnis code

UGT1A

Synonyms

• OMIM code : *191740
• toxicitY irinotecan ou Campto - UGT1A1

Specialty

Genetics

Clinical significance

UGT1A1 (uridine diphosphate glucuronosyltransferase 1A1) is a liver enzyme involved in the glucuronidation process. A mutation of the promoter of the UGT1A1 gene is responsible for reduced enzymatic activity. Yet this enzyme is responsible for the elimination in the glucuronoconjugated form of Irinotecan (CamptoÒ), a drug indicated in colorectal cancers, either as a monotherapy or in combination with 5-fluorouracil and folinic acid. The detection of the UGT1A1*28 or TA7TAA allele in the homozygous state can highlight a toxic risk linked to the Irinotecan, prevent haematological and digestive toxicities and optimize the dose of antineoplastic agent to administer.

Preanalytics

• 1 tube(s) :
• Whole blood on lithium heparin or whole blood on EDTA, avoid tubes containing beads.
•   Refrigerated

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
1 specific aliquot for this analysis

Documents to download

• Declaration of consultation and consent (D23-INTGB)

Methodology

Real-time PCR

Turnaround time

10 days