UGT1A1 : screening for UGT1A1*28(rs8175347) polymorphism - Involved in irinotecan metabolism
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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
Documents to download
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
Dr Laure RAYMOND
Dr Marc NOUCHY
E-mail(s)
Phone(s)
+334 72 80 10 04
+334 72 80 25 77
+334 72 80 23 30
+334 72 80 25 77
+334 72 80 23 30