Pathology Test Details

Item	Details
Laboratory	Royal Prince Alfred Hospital : Dept. Medical Genomics - NSW
Test Name	Alpha Thalassaemia
Genes Tested	HBA1,HBA2
Test Description	Detection of deletions or variants in thr alpha globin genes associated with alpha thalassaemia. Requests for testing MUST be accompanied by results for: Full bood count, Haemoglobinopathy screen and iron studies to exclude iron deficiency.
Method	DNA Sanger Sequencing plus MLPA
Test Type	Panel
Comment	DNA sequencing of HBA1 and HBA2 genes. MLPA of alpha globin locus for detection of deletions or amplifications. Diagnostic testing only.
Test Accreditation	Included In NATA Scope
Clinical Context	Heritable variants
Sample Required	5mL blood in EDTA tube. Refer to RCPA Sample requirements for medical genetic testing: http://genetictesting.rcpa.edu.au/Sample-requirements-for-medical-genetic-testing.pdf
Turn Around Time	8 weeks
Medicare Rebate	No Medicare rebate
Pathology Test Last Edit Date	21/11/2019 6:21:03 PM 21-Nov-2019

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