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UGT1A1 Genotyping for Gilbert/Irinotecan

UDP Glucuronosyltransferase 1A1 Genotyping, Gilberts, Irinotecan

Test Codes

EPIC: LAB6927, Beaker: XGUGT, ARUP: 51332

Department

Send Outs

Specimen Collection Criteria

Collect (preferred specimen): One Lavender-top EDTA or Yellow-top ACD tube.

Also acceptable: Extracted DNA (50 ng/mcL).

Note: This test should NOT be used for patients suspected of Crigler-Najjar syndrome.

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain whole blood in original collection tubes, at refrigerated temperature (2-8°C or 36-46°F).

Preparation for Courier Transport

Transport: 3.0 mL whole blood, refrigerated temperature (2-8°C or 36-46°F). (Minimum: 1.0 mL)

Rejection Criteria

• Centrifuged specimens.
• Frozen specimens.
• Specimens not collected and processed as indicated.
• This test will only be performed once in a lifetime for a patient.

In-Lab Processing

Do not centrifuge. Maintain whole blood in original collection tubes, refrigerated temperature (2-8°C or 36-46°F).

Transport: 3.0 mL whole blood, refrigerated temperature (2-8°C or 36-46°F). (Minimum: 1.0 mL) 

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 1 week
Refrigerated (2-8°C or 36-46°F): 1 month
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to ARUP Laboratories, Salt Lake City, UT.

Performed

Varies.
Results available in 3-8 days. 

Reference Range

By report.

Test Methodology

Polymerase Chain Reaction (PCR)/Fragment Analysis.

Interpretation

By report.

Clinical Utility

• The genotyping test helps identify patients at risk for Irinotecan toxicity. UGT1A1 genotyping is also used for the diagnosis of Gilbert syndrome.
  
• The test is recommended on patients to be treated with chemotherapy regimens including Irinotecan (Camptosar). The test is also recommended in patients with unconjugated hyperbilirubinemia.
  
• This test does not detect Crigler-Najjar syndrome type 1 or type 2

CPT Codes

81350

Contacts

Last Updated

10/10/2023