“Researchers from the University of Melbourne and Murdoch Children’s Research Institute (MCRI) have developed a blood test capable of rapidly diagnosing rare genetic diseases in babies and children, eliminating the need for costly and invasive procedures and giving families earlier access to treatment.

Genome sequencing has advanced the diagnosis of rare diseases, however this test is only successful for half of all cases. The remaining half of patients must undergo additional functional tests to confirm if a gene mutation is causing the disease. This diagnostic process can take months or years with no guarantee of a result, as most functional tests are only applicable to a single or handful of rare diseases.

Now new research, published in the journal Genome Medicine, reveals a new blood test can rapidly detect abnormalities in up to 50 percent of all known rare genetic diseases in a matter of days by analysing the pathogenicity of thousands of gene mutations at once, potentially replacing thousands of other functional tests.”

From University of Melbourne.