GTR Test Accession:
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GTR000528057.1
Registered in GTR:
2015-09-03
View version history
GTR000528057.1,
registered in GTR:
2015-09-03
Last annual review date for the lab: 2024-07-23
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At a Glance
Test purpose:
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Mutation Confirmation;
Pre-symptomatic;
Prognostic; ...
Conditions (1):
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Multiple endocrine neoplasia, type 1
Genes (1):
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MEN1 (11q13.1)
Methods (2):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequencing; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Hereditary Thyroid and Other Neuroendocrine Gland Cancer
Clinical validity:
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Not provided
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Specimen Source:
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- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
- Licensed Physician
- Physician Assistant
- Public Health Mandate
Lab contact:
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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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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequencing
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Applied Biosystems 3130 Genetic Analyzer
Clinical Information
Test purpose:
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Mutation Confirmation;
Pre-symptomatic;
Prognostic;
Risk Assessment;
Screening;
Therapeutic management
Clinical utility:
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Target population:
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Hereditary Thyroid and Other Neuroendocrine Gland Cancer
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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yes 100%
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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Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular 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.