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Test ID UGT2O UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia, Saliva

Useful For

Identifying individuals who are at risk of hyperbilirubinemia

 

Confirmation of a diagnosis of Gilbert or Crigler-Najjar syndromes

 

Verification of carrier status for Gilbert or Crigler-Najjar syndromes

 

Genotyping patients who prefer not to have venipuncture done

Genetics Test Information

This test includes gene sequencing of UGT1A1 and is interpreted for the purposes of hyperbilirubinemia syndromes including Gilbert syndrome and Crigler-Najjar syndrome. If UGT1A1 gene sequencing is desired for interpretation related to UGT1A1 drug metabolism (irinotecan and others), order UGTIO / UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Hypersensitivity, Saliva.

Method Name

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

UGT1A1 Sequence, Hyperbili, Saliva

Specimen Type

Saliva

Specimen Required

Multiple saliva genotype tests can be performed on a single specimen after a single extraction. See Multiple Saliva Genotype Tests in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube: Oragene DNA Self-Collection Kit (T651: fees apply)

Specimen Volume: Full tube

Collection Instructions:

1. Fill tube to line.

2. Send specimen in original container per kit instructions.

Forms:

1. UGT1A1 Gene Testing for Hyperbilirubinemia Patient Information Sheet (T664) is required. See Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Saliva Ambient

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

CPT Code Information

81350-UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide AI) (eg, irinotecan metabolism), gene analysis, common variants (eg, *28, *36, *37)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UGT2O UGT1A1 Sequence, Hyperbili, Saliva In Process

 

Result ID Test Result Name Result LOINC Value
UGTSQ UGT, Full Gene Sequencing In Process
33028 UGT1A1 Hyperbilirubinemia Result No LOINC Needed
33029 Reviewed by No LOINC Needed
33030 UGT1A1 Hyperbilirubinemia Interp 69047-9

Test Classification

See Individual Test IDs

Profile Information

Test ID Reporting Name Available Separately Always Performed
UGTHO UGT1A1 Sequence, Hyperbilirubinemia No Yes
UGTSQ UGT, Full Gene Sequencing No Yes

Testing Algorithm

See UGT1A1 Test-Ordering Algorithm in Special Instructions