Irinotecan Toxicity Genotyping (UGT1A1) Test Cost & Procedure

A topoisomerase I inhibitor called irinotecan is used to treat a variety of solid tumor types, most often in conjunction with other chemotherapeutic drugs to treat colorectal cancer. For the treatment of colorectal cancer, irinotecan and 5-fluorouracil (5FU) is frequently utilized. Irinotecan and its functional metabolite, SN-38, inhibit topoisomerase I, staving off the re-ligation of single-stranded DNA breaks stimulated during the DNA synthesis phase of cellular replication. Cell death eventually impacts the negligence to effectively restore the resulting double-stranded DNA deterioration.

Procedure and analysis for testing

The most prevalent irinotecan polymorphic variant is identified by the UGT1A1 Genotyping Kit, a PCR-based technique, using allele-specific probes. The testing process consists of three easy steps:

• DNA extraction from whole blood
• Using allele-specific probes, certain UGT1A1 gene areas are amplified
• Using real-time PCR equipment software for analysis
• From DNA isolation to test outcomes, this method can be finalized in about two hours.

Tools and Materials

A real-time PCR device is required for the UGT1A1 Genotyping Kit. There are no columns or DNA isolation supplies included.

Incidence

1. Three to seven percent of Americans have the condition.
2. Syndrome of Crigler-Najjar: 1/million
3. Symptoms
4. Unconjugated hyperbilirubinemia that is inherited without hemolytic anemia or liver damage
5. Clinical phenotypes across the spectrum that differ in response to phenobarbital loading, blood bilirubin levels, and residual UGT1A1 enzyme activity
6. Type I of the Crigler-Najjar syndrome (MIM #218800)
7. The most severe phenotype caused by a lack of hepatic UGT1A1 activity
8. Jaundice, severe hyperbilirubinemia, and kernicterus risk
9. Crigler-Najjar syndrome type II that is resistant to phenobarbital (MIM #606785)
10. Hepatic UGT1A1 activity that is drastically reduced (usually 10% of normal)
11. Jaundice with intermediate hyperbilirubinemia, low risk of kernicterus
12. The ability to respond to phenobarbital loading
13. Syndrome Gilbert (MIM #143500)
14. a reduction in UGT1A1 activity
15. mild hyperbilirubinemia that fluctuates
16. Jaundice is frequently asymptomatic and may come and go.
17. Unconnected to kernicterus

Summary

A rapidly evolving standard oncology procedure is the usage of multi-gene testing media to individualize therapy. A familiar characteristic of multi-gene molecular testing assays is the inclusion of UGT1A1, which encodes for the uridine diphosphate glucuronosyltransferase (UGT) 1A1 enzyme. Multiple medications utilized in oncology may be involved in UGT1A1 polymorphisms' impacts on drug-induced toxicities. But there isn't much information available, and it can vary depending on the source, and on how to incorporate UGT1A1 results into treatment decision-making.. There is a review of available materials that offer suggestions for UGT1A1-guided medicine prescribing, along with suggestions for how to incorporate them into patient care.