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.
Genetics - Molecular Pathology
Alpha Globin Gene Sequencing
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
$949.14 (Exclusive of GST)
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.
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).
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