Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000508074.7
Last updated in GTR:
2024-06-28
View version history
GTR000508074.7,
last updated:
2024-06-28
GTR000508074.6,
last updated:
2023-07-03
GTR000508074.5,
last updated:
2022-07-12
GTR000508074.4,
last updated:
2021-07-13
GTR000508074.3,
last updated:
2020-07-15
GTR000508074.2,
last updated:
2018-07-25
GTR000508074.1,
registered in GTR:
2017-07-25
Last annual review date for the lab: 2024-06-28
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Thyroid hormone resistance, generalized, autosomal dominant
Genes (1):
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THRB (3p24.2)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
This test detects variants in the THRB gene associated with …
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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RTH
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
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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https://testdirectory.questdiagnostics.com/test/home
for fetal samples, documentation of parental variant is required; please call GeneInfo at 866.463.3463 to discuss case with a Quest genetic counselor.
Order URL
for fetal samples, documentation of parental variant is required; please call GeneInfo at 866.463.3463 to discuss case with a Quest genetic counselor.
Order URL
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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Based on applicable state law
Test strategy:
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https://testdirectory.questdiagnostics.com/test/home
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test
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 *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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This test detects variants in the THRB gene associated with Resistance to Thyroid Hormone (RTH). It can be used in affected individuals and identify familial variants. It can also be used for prenatal diagnosis in at-risk pregnancies
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The laboratory follows ACMG variant classification protocols
The laboratory follows ACMG variant classification protocols
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. Inquiry by the ordering provider regarding potential changes to the classification of the variant is strongly recommended prior to making any clinical decision. If a variant is reclassified and this has clinical implications, Quest Diagnostics will endeavor to contact the ordering provider. For questions regarding variant classification updates, please call … View more
Yes. Inquiry by the ordering provider regarding potential changes to the classification of the variant is strongly recommended prior to making any clinical decision. If a variant is reclassified and this has clinical implications, Quest Diagnostics will endeavor to contact the ordering provider. For questions regarding variant classification updates, please call … View more
Recommended fields not provided:
Clinical validity,
Clinical utility,
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 and specificity = 99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Alternative Assessment
Yes
Method used for proficiency testing: Help
Alternative Assessment
VUS:
Laboratory's policy on reporting novel variations
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Novel variations are reported
Novel variations are reported
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
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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.