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UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia

Reporting Name

UGT1A1 Sequence, Hyperbilirubinemia
Seattle Children's Hospital Note:

Clinical System Name: Miscellaneous Test

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

Specimen Required

Multiple whole blood EDTA genotype tests can be performed on a single specimen after a single extraction. See Multiple Whole Blood EDTA Genotype Tests in Special Instructions for a list of tests that can be ordered together.



Adults: Lavender top (EDTA)

Pediatrics: Purple microtube

Specimen Volume:

Adults: 3 mL

Pediatrics: 1 mL

Collection Instructions:

1. Send specimen in original tube.

2. If submitting microtube, place inside a larger tube or vial for transport.

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)

Day(s) and Time(s) Performed

Tuesday; Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

Method Description

Genomic DNA is extracted from whole blood. The UGT1A1 gene is amplified by PCR. The PCR product is then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in the exons and intron/exon boundaries of the all exons and a region in the distal promoter called the "phenobarbital response enhancer module using mutation detection software and visual inspection (Skierka J, O'Kane D: UDP-glucuronosyltransferase 1A1 and the glucuronidation in oncology applications and hyperbilirubinemia. In Molecular Diagnostics: Techniques and Applications for the Clinical Laboratory. Edited by WW Grody, RM Nakamura, FL Kiechle, CM Strom. Academic Press 2010, pp 409-420)

Reference Values

An interpretive report will be provided.

Test Classification

See Individual Test IDs

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
UGT2 UGT1A1 Sequence, Hyperbilirubinemia In Process


Result ID Test Result Name Result LOINC Value
UGTSQ UGT, Full Gene Sequencing In Process
89611 UGT1A1 Hyperbilirubinemia Result 34509-0
30985 UGT1A1 Hyperbilirubinemia Interp 69047-9
30986 Reviewed by No LOINC Needed

Testing Algorithm

See UGT1A1 Test-Ordering Algorithm in Special Instructions.

Reject Due To









Profile Information

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


1. UGT1A1 Gene Testing for Hyperbilirubinemia Patient Information (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.