Haemoglobinopathy Studies

Together with the Diagnostic Molecular Genetics Department the Haematology Laboratory at PathWest QEII provides a reference centre for the diagnosis of thalassaemia or haemoglobin variants for Western Australia.
 
Testing includes initial screening and a comprehensive molecular assessment including assays for common deletions causing alpha thalassaemia, alpha and beta globin sequencing and multiplex ligand dependent probe amplification for the investigation of deletions within the alpha and beta globin loci.
 
Prenatal diagnostic testing is also available, in consultation with the Genetics Services WA at KEMH.
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Page last updated: 30 Jun 2020