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Resistance to Thyroid Hormone (RTH) Gene Sequencing

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

  • N/A

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 Room Temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable.

Limitations

Do not reject. Forward to performing laboratory for evaluation of sample.

Other Acceptable Specimens

10 mL (10 mL minimum) amniotic fluid or 10 mg (10 mg minimum) chorionic villi collected in a sterile, leak-proof container OR Cultured cells (75% confluent minimum) collected in each of two sterile T-25 flasks

Unacceptable Specimens

N/A

Order Code

RTHSEQ

EPIC (Premier) Code

LAB6008

Includes

N/A

CPT Code

  • 81405

Billing Code

  • 700000

CPT Statement

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

Reference Range

Negative

Setup Schedule / Expected Turnaround Time

As needed; Minimum 1x/week; Report available: 3 - 5 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 Room Temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable.

Limitations

Do not reject. Forward to performing laboratory for evaluation of sample.

Other Acceptable Specimens

10 mL (10 mL minimum) amniotic fluid or 10 mg (10 mg minimum) chorionic villi collected in a sterile, leak-proof container OR Cultured cells (75% confluent minimum) collected in each of two sterile T-25 flasks

Unacceptable Specimens

N/A

Billing

CPT Code

  • 81405

Billing Code

  • 700000

CPT Statement

CPT Statement

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: 3 - 5 weeks