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Resistance to Thyroid Hormone (RTH) Gene Sequencing
Test Code16053
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 separate T25 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.
-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: Unacceptable
Amniotic fluid
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Chorionic villus
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Amniotic fluid
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
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.
