Resistance to Thyroid Hormone (RTH) Gene Sequencing
GTR Test Accession: Help GTR000508074.7
ENDOCRINOLOGYINHERITED DISEASEMETABOLIC DISEASE ... View more
Last updated in GTR: 2024-06-28
Last annual review date for the lab: 2024-06-28 LinkOut
At a Glance
Diagnosis
Thyroid hormone resistance, generalized, autosomal dominant
Genes (1): Help
THRB (3p24.2)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
This test detects variants in the THRB gene associated with …
Not provided
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Test short name: Help
RTH
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
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.
How to Order: Help
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
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://testdirectory.questdiagnostics.com/test/home
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
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? Help
The laboratory follows ACMG variant classification protocols

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity = 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
VUS:
Laboratory's policy on reporting novel variations Help
Novel variations are reported
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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