skip navigation
A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMPST
Method

Exons 7 to 10 of the Thyroid Hormone Receptor Beta (THRB) gene are amplified using PCR and analysed by DNA sequencing.

Diagnostic Use / Indications

Resistance to thyroid hormone (RTH), with elevated serum free thyroid hormones and non-suppressed thryrotropin levels, is either relatively asymptomatic, suggesting a generalized disorder (GRTH) or associated with thyrotoxic features, indicating possible selective pituitary resistance (PRTH). Analysis of exons 7 to 10 of the THRB gene may detect between 95% and 100% of all mutations in patients with Generalised Resistance to Thyroid Hormone (GRTH).

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7302

CHL Follow us on Facebook