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Gilbert syndrome (UGT1A1 gene)
Clinical Genetic Test
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offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568280.3
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Gilbert syndrome
Genes (3): Help
UGT1A1 (2q37.1), UGT1A3 (2q37.1), UGT1A8 (2q37.1)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
Gilbert syndrome is present in ∼5–10% of the population. The …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
Gilbert syndrome
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2185
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Gilbert syndrome is present in ∼5–10% of the population. The prevalence of GS is lower in Chile compared to Europeans (~ 5%), the prevalence of UGT1A1*28 homozygotes is similar (~ 12%). In Chilean Hispanics, the UGT1A1*28 variant explain 75% of GS phenotype.
View citations (1)
  • Wagner KH, Shiels RG, Lang CA, Seyed Khoei N, Bulmer AC. Diagnostic criteria and contributors to Gilbert's syndrome. Crit Rev Clin Lab Sci. 2018;55(2):129-139. doi:10.1080/10408363.2018.1428526. Epub 2018 Feb 01. PMID: 29390925.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Wagner KH, Shiels RG, Lang CA, Seyed Khoei N, Bulmer AC. Diagnostic criteria and contributors to Gilbert's syndrome. Crit Rev Clin Lab Sci. 2018;55(2):129-139. doi:10.1080/10408363.2018.1428526. Epub 2018 Feb 01. PMID: 29390925.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
500 randomly selected unrelated samples from a universe of 1,100 were genotyped by Sanger (this validation was part of a prevalence study of GS in Chile). Sanger sequencing analysis approaches an analytical sensitivity of almost 100%.
View citations (1)
  • [Prevalence of Gilbert syndrome and its genetic determinants in Chile]. Méndez L, et al. Rev Med Chil. 2013;141(10):1266-74. doi:10.4067/S0034-98872013001000005. PMID: 24522354.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.