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Test Code UGTFZ UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Additional Codes

Torrance Memorial Laboratories Test Code:  1789671275


Ordering Guidance


If analysis of only the UGT1A1 promoter TA repeat region (*28, *36, *37 alleles) is desired, see U1A1Q / UDP-Glucuronosyltransferase 1A1 TA Repeat Genotype, UGT1A1, Varies.



Shipping Instructions


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



Specimen Required


Patient Preparation: A previous liver transplant, bone marrow transplant from an allogenic donor, or a recent (ie, <6 weeks from time of sample collection) heterologous blood transfusion will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

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 whole blood specimen in original tube. Do not aliquot.

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

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

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)

Container/Tube: Saliva Swab Collection Kit

Specimen Volume: One swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

Additional Information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. UGT1A1 Gene Testing Patient Information (T664) is requested but not required.

3. If not ordering electronically, complete, print, and send Therapeutics Test Request (T831) with the specimen.

Useful For

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome

 

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

 

Identifying individuals who are at risk of hyperbilirubinemia or who have Gilbert syndrome

 

Identifying individuals who are at increased risk of adverse drug reactions or hyperbilirubinemia when taking drugs that are metabolized by UGT1A1, including atazanavir, belinostat, irinotecan, nilotinib, pazopanib, and sacituzumab govitecan

 

Identifying individuals who may have increased drug levels when taking dolutegravir or raltegravir

 

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

Testing Algorithm

For information see UGT1A1 Test-Ordering Algorithm.

Method Name

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Reporting Name

UGT1A1 Full Gene Sequencing, V

Specimen Type

Varies

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

TA Repeat Result: TA6/TA6 (Normal), TA5/TA6 (Heterozygous *36), and TA5/TA5 (Homozygous *36)

 

Full Gene Sequence Result: No reportable variants were detected in the UGT1A1 gene by sequencing, and No additional reportable variants were detected in the UGT1A1 gene by sequencing.

 

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

7 to 14 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

81404

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UGTFZ UGT1A1 Full Gene Sequencing, V 93844-9

 

Result ID Test Result Name Result LOINC Value
618686 Result Summary 50397-9
618687 TA Repeat Result 95143-4
618688 Full Gene Sequence Result 82939-0
618691 Interpretation 69047-9
618692 Method 85069-3
618693 Disclaimer 62364-5
618694 Additional Information 48767-8
618695 Reviewed By 18771-6