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Test Mnemonic UGTK UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation

Reporting Name

UGT1A1 Gene, Known Mutation

Useful For

Identifying the presence of a UGT1A1 variant when the variant has been previously identified in a family member (carrier or affected)

Profile Information

Test ID Reporting Name Available Separately Always Performed
UGTKM UGT1A1 Gene, Known Mutation No Yes
UGTKQ UGT1A1 Known Mutation 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


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 Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)

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

81403-Known familial variant not otherwise specified, for gene listed in Tier 1 or Tier 2, DNA sequence analysis, each variant exon

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UGTK UGT1A1 Gene, Known Mutation In Process


Result ID Test Result Name Result LOINC Value
UGTKQ UGT1A1 Known Mutation Sequencing In Process
89396 UGT1A1 Gene, Known Mutation In Process
30988 UGT1A1 Gene, Known Mutation Interp 69047-9
30989 Reviewed by No LOINC Needed

Method Name

Polymerase Chain Reaction (PCR) followed by Site-Specific Gene Sequencing Analysis


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.