GTR Test Accession:
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GTR000018449.3
CAP
Last updated in GTR:
2020-08-13
View version history
GTR000018449.3,
last updated:
2020-08-13
GTR000018449.2,
last updated:
2019-08-13
GTR000018449.1,
registered in GTR:
2018-08-20
Last annual review date for the lab: 2024-07-22
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (1):
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Gilbert syndrome
Genes (1):
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UGT1A1 (2q37.1)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR electrophoresis, capillary gel
Target population: Help
The target population is patients suspected of having a diagnosis …
Clinical validity:
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Individuals with Gilbert syndrome have a reduced level of hepatic …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
CPT codes:
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Contact Policy:
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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:
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All samples should be shipped via overnight delivery at room temperature.
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Confirmation of research findings
Custom Sequence Analysis
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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No
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR electrophoresis, capillary gel
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical validity:
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Individuals with Gilbert syndrome have a reduced level of hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), the enzyme necessary for the conjugation of bilirubin. This enzyme is encoded for by the UGT1A1 gene on chromosome 2q37. A polymorphism in the promoter region of the UGT1A1 gene has been identified in the majority …
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View citations (1)
- Characterization of Nigerian strains of West Nile virus by plaque formation. Odelola HA, et al. Acta Virol. 1975;19(6):489-92. doi:10.1128/iai.12.5.1104-1111.1975. PMID: 1. Bosma et al. “The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome”. (1995) New Engl. J. Med. 333: 1171-1175. 2. Monaghan et al. “Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome”. (1996) Lancet. 347: 578-581. 3. Akaba et al. “Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese”. (1999) J Hum Genet 44(1): 22-5. 4. Iyer et al. “UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity”. (2002) Pharmacogenomics J. 2:43-47. 5. Innocenti et al. “Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan”. (2004) J. Clin. Oncol. 22:1382-1388..
Target population:
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The target population is patients suspected of having a diagnosis of Gilbert's syndrome.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Research:
Is research allowed on the sample after clinical testing is complete?
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http://dnatesting.uchicago.edu/research-consent-form
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Clinical utility,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Sample negative report,
Sample positive report
Technical Information
Test Comments:
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UGT1A1*28 (promoter polymorphism) and *6 (G71R) polymorphisms are tested for Gilbert syndrome and only the UGT1A*28 polymorphism is tested for irinotecan metabolism.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100%
Accuracy 100%
Precision 100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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
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A custom collection of bioinformatics tools
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations.
A custom collection of bioinformatics tools
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations.
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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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.