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Resistance to Thyroid Hormone (RTH) Gene Sequencing
Test Code16053
CPT Codes
81405
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
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
100 ng extracted DNA • Amniotic fluid • Cultured Amniocytes collected in T-25 Flask (x2) • 20 mg chorionic villus biopsy • Isolated DNA • Cultured chorionic villi
Instructions
Whole blood: 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 10262N)
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.
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 10262N)
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.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Refrigerated: 14 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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set-up: as needed, minimum 1 time per week; Report available: 2-4 weeks
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.
