Sign in →

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


Advisory Information


If analysis of only the UGT1A1 promoter TA repeat region (*28, *36, *37 alleles) is desired, see U1A1V / UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1.



Shipping Instructions


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



Specimen Required


Multiple whole blood EDTA 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.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Adults: Lavender top (EDTA)

Pediatrics: Purple microtube

Specimen Volume:

Adults: 3 mL

Pediatrics: 1 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786: fees apply)

Container/Tube: Saliva Swab Collection Kit (T786)

Specimen Volume: One swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

 

Specimen Type: DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated


Forms

1. 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.

2. UGT1A1 Gene Testing Patient Information (T664) is requested. See 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)

Useful For

Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by UGT1A1, including irinotecan, atazanavir, nilotinib, pazopanib, and belinostat

 

Identifying individuals who are at risk of hyperbilirubinemia

 

Follow-up testing for individuals with a suspected UGT1A1 variant, who had negative TA repeat region testing

 

Establishing a diagnosis of Gilbert, Crigler-Najjar syndrome type I or type II

 

Establishing carrier status for Gilbert, Crigler-Najjar syndrome type I or type II

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

Reporting Name

UGT1A1 Full Gene Sequencing

Specimen Type

Varies

Specimen Minimum Volume

Blood: 0.45 mL
Saliva: one swab

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

NA

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; 8 a.m.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UGTFG UGT1A1 Full Gene Sequencing In Process

 

Result ID Test Result Name Result LOINC Value
91972 Result Summary 50397-9
91977 TA Repeat Result In Process
BA0266 Full Gene Sequence Result In Process
91993 Interpretation In Process
92007 Additional Information 48767-8
92008 Method 49549-9
92009 Disclaimer 62364-5
92010 Reviewed By 18771-6

Testing Algorithm

See UGT1A1 Test Ordering Algorithm in Special Instructions.