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HelpTest 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.
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.
Secondary ID
610064Useful 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.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis
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.
Interpretation
An interpretive report will be provided that includes assessment of risk for UGT1A1-associated adverse drug reactions as well as interpretation for hyperbilirubinemia syndromes.
All detected variants are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(9) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
For additional information regarding pharmacogenomic genes and their associated drugs, see Pharmacogenomic Associations Tables. This resource includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.
Method Description
Genomic DNA is extracted from whole blood. The UGT1A1 gene is amplified by polymerase chain reaction (PCR). The PCR product is then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer, and the trace files analyzed for sequence variants in the exons and intron/exon boundaries using variant detection software and visual inspection.(Skierka J, O'Kane D: UDP-glucuronosyltransferase 1A1 and the glucuronidation in oncology applications and hyperbilirubinemia. In: Grody WW, Nakamura RM, Kiechle FL, Strom CM, eds. Molecular Diagnostics: Techniques and Applications for the Clinical Laboratory. Academic Press; 2010:409-420)
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 Rochester
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 |