Alpha Thalassaemia: HBA1/HBA2 Sequencing

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

Alpha Globin Gene Sequencing
Alpha Thalassemia
HBA1
HBA2

Turnaround Time

4 weeks

Test Code

4559

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

0.5

Aliquot Instructions

Test 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

Non-Funded Test Cost

$949.14 (Exclusive of GST)

Billing Code

4559

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).

Contact Information

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