Resistance to Thyroid Hormone (RTH) Gene Sequencing
Order Code: RTHSEQ
Test Summary
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.
Aliases
- Resistance to Thyroid Hormone (RTH)
- Thyroid Hormone Recep Beta (RTH) DNA
- THRB Mutation Analysis
Specimen Collection
Special Instructions
N/A
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
Instructions
Do not hold specimen; forward to laboratory when specimen arrives. Contact performing laboratory for stability determination. For any other sample type call 866-GENE-INFO (1-866-436-3463). Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For fetal testing: 1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission. 2) Documentation of parental carrier status must be provided. 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive. Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Patient Preparation
N/A
Storage
N/A
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: Unacceptable. Fetal Specimens Roomt Temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable.
Limitations
N/A
Other Acceptable Specimens
10 mL amniotic fluid collected in a sterile, plastic, leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two sterile T-25 flasks
Unacceptable Specimens
Do not reject. Forward to performing laboratory for evaluation of sample.
Order Code
RTHSEQ
EPIC (Premier) Code
LAB6008
Includes
N/A
CPT Code
- 81405
Billing Code
- 671035
CPT Statement
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. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Physician Attestation of Informed Consent
N/A
Testing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675
33608 Ortega Highway
San Juan Capistrano CA, 92675
Department
Reference Testing
Reference Range
Negative
Setup Schedule / Expected Turnaround Time
As needed; Minimum 1x/week; Report available: 2 - 4 weeks
Specimen Collection
Special Instructions
N/A
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
Instructions
Do not hold specimen; forward to laboratory when specimen arrives. Contact performing laboratory for stability determination. For any other sample type call 866-GENE-INFO (1-866-436-3463). Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For fetal testing: 1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission. 2) Documentation of parental carrier status must be provided. 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive. Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Patient Preparation
N/A
Storage
N/A
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: Unacceptable. Fetal Specimens Roomt Temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable.
Limitations
N/A
Other Acceptable Specimens
10 mL amniotic fluid collected in a sterile, plastic, leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two sterile T-25 flasks
Unacceptable Specimens
Do not reject. Forward to performing laboratory for evaluation of sample.
Result Information
Methodology
Next Generation Sequencing
Testing Laboratory
N/A
Reference Range
Negative
Setup Schedule / Expected Turnaround Time
As needed; Minimum 1x/week; Report available: 2 - 4 weeks