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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

Non-deletional alpha thalassaemia can be detected by alpha globin gene sequencing. There are two alpha globin genes (HBA1 and HBA2) on each chromosome 16 and they are selectively amplified and sequenced.

For deletion/duplication analysis of this gene refer to MLPA Testing

 

Diagnostic Use / Indications

Alpha thalassaemia is a group of genetic disorders characterised by the absence or reduction of alpha globin chain synthesis. The result of the reduction in haemoglobin production is a varying degree of microcytosis and anaemia.

External Price$873.00(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
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Contact Phone Number03 3640 548
Test Availability9am-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

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 Number4559

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