Test Directory

Test Code
IRIN1
Test Name
UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping
CPT Codes
81350
Expected Turnaround Time
4 - 7 days
Clinical Utility

The UGT1A1 Genotyping Assay is designed to support healthcare professionals in pharmacogenomic-guided medication management. Detection of UGT1A1 promoter TA repeat alleles, including TA5 (*36), TA6 (*1), TA7 (*28), and TA8 (*37), may help identify patients at increased risk for irinotecan-associated toxicity and support individualized treatment and dosing decisions in accordance with CPIC and other professional guidelines.

Specimen and Container Info

Specimen Type: Whole Blood

Preferred Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 1mL

Collection Instructions

Invert tube 8 - 10 times immediately after tube is filled at the time of collection.

Transport Instructions

Transport to the laboratory at room temperature. 

Stability Requirements

Room Temperature

7 days from collection

Refrigerated

7 days from collection

Frozen

NA

Freeze/Thaw Cycles

NA

Causes for Rejection
  • Any specimen with leakage on the outside of the container will be rejected. Ensure the lid is tightly closed.
  • Any specimen shared with another laboratory test will be rejected.
  • Any specimen collected in an outdated collection tube will be rejected.
Methodology
Polymerase Chain Reaction (PCR)/Capillary Electrophoresis (CE)
Limitations

This assay detects only UGT1A1 promoter TA repeat alleles, including TA6 (*1), TA7 (*28), TA5 (*36), and TA8 (*37), and does not detect other pathogenic UGT1A1 variants. Variants not included in the assay design will not be identified. A negative result does not exclude the presence of other clinically significant UGT1A1 variants or variants in other genes involved in drug metabolism pathways. Clinical interpretation of this assay is limited to irinotecan therapy; associations with other drugs are not evaluated.

Performing Location
Roble Road Core Laboratory
Alternate Names
  • Camptosar
  • Irinotecan
  • UGT1A1
  • UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping
  • UGT1A1 Irinotecan Toxicity
  • UGT1A1 TA repeat
  • CPT-11
Description

The UGT1A1 Genotyping Assay detects promoter TA repeat alleles in the UGT1A1 gene, including TA5 (*36), TA6 (*1), TA7 (*28), and TA8 (*37). These variants are associated with altered UGT1A1 enzyme expression and may influence irinotecan metabolism and the risk of treatment-related toxicity. Results should be interpreted by the patient’s healthcare provider in the context of the patient’s clinical history, medication profile, and treatment plan.

Testing Schedule
Routine, Monday - Friday no holidays
Genes
UGT1A1 TA5 (*36), TA6 (*1), TA7 (*28), and TA8 (*37)