fig2

The Australian landscape of newborn screening in the genomics era

Figure 2. Integrated newborn bloodspot screening processes in Australia[7,44]. *In addition to dried blood spots (DBSs) collected from its own state, the Queensland (QLD) laboratory also receives cards from Katherine, Northern Territory (NT), and towns in NT north of Katherine. Similarly, the South Australian (SA) laboratory receives DBS cards from SA as well as Tasmania and towns south of Katherine in NT. **As per the Human Genetics Society of Australasia (HGSA)’s definitions and categorisation of conditions[1]. NBS: newborn bloodspot screening; DBS: dried bloodspot; SCID: severe combined immunodeficiency; SMA: spinal muscular atrophy: CF: cystic fibrosis: MCADD: medium-chain acyl-CoA dehydrogenase deficiency. This figure was created using https://www.biorender.com/.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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