Scientists develop breakthrough blood test for rare genetic disorders in children

Scientists at the University of Melbourne and MCRI have developed a rapid blood test that can diagnose rare genetic diseases in children within days. The test assesses thousands of gene mutations simultaneously, potentially replacing invasive procedures like muscle biopsies. It can detect abnormalities in up to 50% of known rare genetic diseases, improving diagnosis rates and allowing earlier treatment. A clinical trial with 300 patients is underway to further evaluate the test's effectiveness.