Resistance to Thyroid Hormone (RTH) Gene Sequencing [16053]

Message
For Specimen Integrity during Extreme Weather see the “Lockbox Usage in Extreme Weather” document at the top of this page.


Test Code
RTHSEQ


Alias/See Also
16053


CPT Codes
81405

Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top), ACD (yellow-top) or sodium heparin (green-top) tube


Minimum Volume
3 mL


Other Acceptable Specimens
Amniotic fluid, Cultured Amniocytes collected in each of two (x2) separate T-25 Flasks • 20 mg Chorionic villus biopsy, Cultured Chorionic Villi


Instructions
-Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze.
-For prenatal diagnosis with a fetal specimen: 1) a parent must be documented carrier of a THRB mutation; 2) maternal blood or DNA must be available to rule out maternal cell contamination (order test code 10262); 3) contact the laboratory genetic counselor before submission.
-Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
-Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
-Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture medium or two sterile T25 flasks. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
-Extracted DNA: Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.


Transport Temperature
Room temperature


Specimen Stability
Whole blood (preferred)
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Chorionic villus
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen:


Methodology
Next Generation Sequencing

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up: As needed; Minimum 1x/week; Report available: 3-5 weeks


Reference Range
Negative


Clinical Significance
This test detects variants in the THRB gene associated with Resistance to Thyroid Hormone (RTH). It can be used to confirm a diagnosis of RTH in affected individuals and identify familial variants.


Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042



Last Updated: December 6, 2021


The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.