GTR Test Accession:
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GTR000519583.5
Last updated in GTR:
2024-07-15
View version history
GTR000519583.5,
last updated:
2024-07-15
GTR000519583.4,
last updated:
2021-01-11
GTR000519583.3,
last updated:
2020-01-21
GTR000519583.2,
last updated:
2018-01-18
GTR000519583.1,
registered in GTR:
2014-11-04
Last annual review date for the lab: 2022-01-06
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (1):
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Celiac disease
Genes (2):
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HLA-DQA1 (6p21.32);
HLA-DQB1 (6p21.32)
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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Celiac Disease Genotyping
Specimen Source:
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- Buccal swab
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Physician Assistant
- Public Health Mandate
Lab contact:
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Contact Policy:
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Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom mutation-specific/Carrier testing
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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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
How to Order,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
ABI 3500XL
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment;
Screening
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
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: Greater than 99 percent
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
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
Clinical resources:
Practice guidelines:
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.