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Test ID UGTFG UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies


Ordering Guidance


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



Shipping Instructions


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



Necessary Information


UGT1A1 Gene Testing Patient Information (T664) is recommended, but not required, to be filled out and sent with the specimen.



Specimen Required


Patient Preparation: A previous 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 specimen in original tube. Do not aliquot.

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)

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

 

Specimen Type: Extracted 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. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-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. See Special Instructions.

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Oncology Test Request (T729)

-Therapeutics Test Request (T831)

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: 1 swab

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Tuesday

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. This test 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
UGTFG UGT1A1 Full Gene Sequencing 93844-9

 

Result ID Test Result Name Result LOINC Value
91972 Result Summary 50397-9
91977 TA Repeat Result 95143-4
BA0266 Full Gene Sequence Result 82939-0
91993 Interpretation 69047-9
92007 Additional Information 48767-8
92008 Method 85069-3
92009 Disclaimer 62364-5
92010 Reviewed By 18771-6

Testing Algorithm

See UGT1A1 Test-Ordering Algorithm in Special Instructions.