Blood test quickly diagnoses babies' rare genetic diseases

A new blood test has been developed that could significantly speed up the diagnosis of rare genetic diseases in babies, potentially leading to earlier treatment. The test analyzes proteins in blood cells to identify the effects of genetic mutations, offering results in as little as three days. It has shown promise in diagnosing mitochondrial diseases, outperforming current methods and increasing diagnostic yield. Researchers believe the test could be applicable to about half of the 7,000 known rare diseases, offering a less invasive and more cost-effective alternative to current diagnostic procedures, potentially improving patient care.