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
VariesSpecimen 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 daysSpecimen Retention Time
Whole blood/Saliva swab: 2 weeks; Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81404