Blood test developed that could speed up diagnosis of rare diseases in babies
Scientists say new approach means effects of many genetic mutations can be analysed at once and yield results in days
A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner.
Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous.
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© Photograph: UK Stock Images Ltd/Alamy