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Test Code UGT2 UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia

Reporting Name

UGT1A1 Sequence, Hyperbilirubinemia

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

Profile Information

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

Testing Algorithm

See UGT1A1 Test-Ordering Algorithm in Special Instructions.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA

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.

 

Container/Tube:

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.

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.

3. If not ordering electronically, complete, print, and send an Oncology Test Request Form (T729) with the specimen

(http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)

Specimen Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; Varies

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

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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