New blood test quickly diagnoses rare genetic diseases

Researchers have developed a new blood test that can rapidly diagnose rare genetic diseases in children, potentially shortening the diagnostic journey from years to days. The test uses proteomics to analyze proteins and interpret genetic sequencing data, providing results in as little as three days, unlike traditional tests that can take weeks or months. This new method is cost-effective and can analyze thousands of gene mutations. This advancement has already helped families, like Corina and Destiny, by quickly confirming diagnoses and enabling informed decisions about future pregnancies, offering hope and potentially preventing further loss.