Thyroid Hormone Resistance Beta (THRB) Gene Sequencing
Also known as: Thyroid Resistance
Use
Diagnostic testing
Special Instructions
Not provided.
Limitations
The NGS assay does not consistently detect mosaicism or rule out large chromosomal rearrangements that do not affect copy number. It cannot detect repeat expansions. False positives or negatives may result from rare genetic variants or sample mishandling. The interpretation depends on available information and may change as more data become accessible. It has not been FDA cleared or approved.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4 - Gene analysis narr rpt Doc
- 51969-4 - Gene analysis narr rpt Doc
- 50397-9 - Mol dx interp Bld/T Ql
- 8251-1 - Service Cmnt-Imp
- 80563-0 - Report
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |
Other tests from different labs that may be relevant