string(5) "29959"

UGT1A1 : screening for UGT1A1*28(rs8175347) polymorphism - Involved in irinotecan metabolism

Back to main menu

Eurofins Biomnis code

UGT1A

Synonyms

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

Clinic 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.

Prenalytics

  • 1 tube(s)
  • Whole blood Lithium heparinate (avoid tubes with separating gel and tubes with beads)
  • Refrigerated

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

Methodology

Real-time PCR

Turnaround time

10 days


Pathologist(s) in charge
Biomnis Lyon
Specialty
Genetics
Contact(s)
Dr Nicole COUPRIE
Dr Laure RAYMOND
Dr Marc NOUCHY
Phone(s)
+334 72 80 10 04
+334 72 80 25 77
+334 72 80 23 30