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

Test Identifier Information

 
Registration CodeMOLP
Method

PCR and automated DNA sequencing of the entire HBB gene.

Diagnostic Use / Indications

Beta thalassemia is a heterogenous group of diseases caused by a variety of mutations that interfere with beta globin gene expression. There are about 200 mutations have been identified in the beta globin gene. These mutations interfere with beta globin gene transcription, processing or translation.

External Price$466.64(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
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Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Reference Interval

DNA sequencing will be able to detect any mutation in the beta globin gene in the exons or the intervening sequences between the three exons and also the 3' untranslated region. Gross gene alterations (such as exon deletions) not amplified by PCR will not be identified by this assay.

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

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number4560

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