Australian researchers have developed a new blood test that can rapidly diagnose rare genetic diseases in babies and children.
The simple blood test, developed by researchers from the University of Melbourne and Murdoch Children's Research Institute (MCRI), eliminates the need for costly and invasive procedures.
It can rapidly detect abnormalities in up to 50 per cent of all known rare genetic diseases in a matter of days. The test works by analysing the pathogenicity of thousands of gene mutations at once, potentially replacing thousands of other functional tests, said the team in the research, published in the journal Genome Medicine.
"A disease is rare if it affects fewer than one in 2,000 people and there are more than 7,000 different rare diseases, most of which have a genetic origin and many of these diseases are serious and progressive," said David Stroud, Associate Professor at University of Melbourne.