UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing
GTR Test Accession: Help GTR000593055.3
CAP
PHARMACOGENOMICINHERITED DISEASEMETABOLIC DISEASE ... View more
Last updated in GTR: 2024-04-24
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis; Drug Response; Therapeutic management
Gilbert syndrome; Atazanavir response; Belinostat response; ...
Genes (1): Help
UGT1A1 (2q37.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes. Individuals …
Not provided
Establish or confirm diagnosis; Guidance for selecting a drug therapy and/or dose
Ordering Information
Offered by: Help
Test short name: Help
UGTFZ
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Elyse Love, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/Overview/610064#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Agilent 2100 Bioanalyzer
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Therapeutic management
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Costa E, Vieira E, Martins M, Saraiva J, Cancela E, Costa M, Bauerle R, Freitas T, Carvalho JR, Santos-Silva E, Barbot J, Dos Santos R. Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis. 2006;36(1):91-7. doi:10.1016/j.bcmd.2005.09.002. Epub 2005 Nov 02. PMID: 16269258.

Guidance for selecting a drug therapy and/or dose
View citations (4)
  • Costa E, Vieira E, Martins M, Saraiva J, Cancela E, Costa M, Bauerle R, Freitas T, Carvalho JR, Santos-Silva E, Barbot J, Dos Santos R. Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis. 2006;36(1):91-7. doi:10.1016/j.bcmd.2005.09.002. Epub 2005 Nov 02. PMID: 16269258.
  • Gammal RS, Court MH, Haidar CE, Iwuchukwu OF, Gaur AH, Alvarellos M, Guillemette C, Lennox JL, Whirl-Carrillo M, Brummel SS, Ratain MJ, Klein TE, Schackman BR, Caudle KE, Haas DW, . Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. Clin Pharmacol Ther. 2016;99(4):363-9. doi:10.1002/cpt.269. Epub 2015 Nov 09. PMID: 26417955.
  • NDA 20-571/S-024/S-027/S-028. Camptosar (Irinotecan HCL) Final Label. July 21, 2005. Pfizer
  • US Food and Drug Administration, Pharmacogenomic Biomarkers in Drug Labeling. Accessed November 2015. Available at www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm

Target population: Help
Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes. Individuals with clinical features of Gilbert syndrome, Crigler-Najjar syndrome, or hyperbilirubinemia.
View citations (4)
  • Costa E, Vieira E, Martins M, Saraiva J, Cancela E, Costa M, Bauerle R, Freitas T, Carvalho JR, Santos-Silva E, Barbot J, Dos Santos R. Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis. 2006;36(1):91-7. doi:10.1016/j.bcmd.2005.09.002. Epub 2005 Nov 02. PMID: 16269258.
  • Gammal RS, Court MH, Haidar CE, Iwuchukwu OF, Gaur AH, Alvarellos M, Guillemette C, Lennox JL, Whirl-Carrillo M, Brummel SS, Ratain MJ, Klein TE, Schackman BR, Caudle KE, Haas DW, . Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. Clin Pharmacol Ther. 2016;99(4):363-9. doi:10.1002/cpt.269. Epub 2015 Nov 09. PMID: 26417955.
  • NDA 20-571/S-024/S-027/S-028. Camptosar (Irinotecan HCL) Final Label. July 21, 2005. Pfizer
  • US Food and Drug Administration, Pharmacogenomic Biomarkers in Drug Labeling. Accessed November 2015. Available at www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Contact lab for details.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Genomic DNA is extracted from whole blood or saliva. Genotyping is performed using a PCR-based 5'-nuclease assay. Fluorescently labeled detection probes anneal to the target DNA. PCR is used to amplify the section of DNA that contains the variant. If the detection probe is an exact match to the target … View more
Test Platform:
Other
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy and analytical sensitivity for simple variants (SNVs and INDELs): (>99%).
Assay limitations: Help
Samples may contain donor DNA if obtained from patients who received non-leukoreduced blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from samples obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, SpliceAI, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.