Alpha Thalassaemia: Alpha globin gene deletion analysis

Diagnostic Use

The alpha thalassemias are a group of genetic disorder characterized by the absence or reduction of alpha globin chain synthesis. This results in varying degrees of microcytic and hypochromic anaemia. Alpha thalassaemia may be caused by the deletion of one or both copies of the alpha-globin genes, HBA1 and HBA2, on chromosome 16p13.3 and can result in mild to severe anaemia. Specific deletions are commonly found in individuals of Mediterranean, Middle Eastern, South East Asian and Polynesian origin.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

Alpha Globin
Alpha Thalassemia
HBA1
HBA2

Turnaround Time

4 weeks

Test Code

3154

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)

1.0

Minimum Sample Volume (ml)

0.5

Pre-testing Requirements

Pre-Testing Requirements:
MLPA based assays are sensitive to the buffer used in DNA extraction processes. Due to this, our preference is to recieve whole blood (EDTA) which will then be extracted at Canterbury Health Laboratories. Processing of DNA extracted at other centers may result in a request for a new sample if the analysis is compromised.

Additional Specimen Information

Sample Delivery to Lab Same day or overnight courier, ambient

Aliquot Instructions

Test Method

The DNA sample is analysed for HBA gene copy number using a multiplex ligatable probe (MLPA) based assay (MRC-Holland) followed by detection/quantification on an ABI3500 genetic analyser.

Non-Funded Test Cost

$288.12 (Exclusive of GST)

Billing Code

9580

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).

Contact Information

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