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Test Code: mthal Preferred Name Thalassaemia molecular studies

No
1 month
Monthly
Contact molecular lab
Non-medicare Item
n/a

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Blood5-10 mL2x EDTA 3 mL whole blood (Lavender top)

COLLECTION NOTES

2 x EDTA required (3 - 6 mL EDTA required for adults and 2 - 4 mL for children).

GENERAL NOTES

Price: $100 for alpha thalassaemia GAP-PCR screen for common forms of deletional alpha thalassaemia.
Additional testing may be required if the GAP-PCR is normal and on Haematologist review there is an indication to exclude rarer forms of alpha thalassaemia. The initial testing report (GAP-PCR) will indicate if additional testing is indicated in selected patients. These additional tests are: HBA-MLPA $250 & HBA1 and HBA2 gene sequencing $300.

Contact the Haematology molecular laboratory 3163 2604 for information regarding this test.  Preliminary screening tests are performed in-house.  On review some patients (e.g. prenatal testing) will have testing  sent to Pathology Queensland Molecular Diagnositics Unit.

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