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Test Code UGTFZ 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-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.


Genetics Test Information

This is a full gene sequencing test for UGT1A1 that includes the TA repeat region of the promoter and all intron/exon boundaries. Results are interpreted for the purposes of UGT1A1 drug metabolism and hereditary hyperbilirubinemia syndromes (Gilbert syndrome and Crigler-Najjar syndrome). This test does not include deletion/duplication analysis of the UGT1A1 gene.

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 0.45 mL; Saliva: See Specimen Required

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

Specimen Retention Time

Whole blood/Saliva swab: 2 weeks; Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81404