Overview

• The proteomic blood test analyzes proteins rather than genes, identifying 83% of patients with confirmed rare genetic diseases.
• Requiring only 1 milliliter of blood, the test delivers results in under three days for urgent cases, offering a faster alternative to current methods.
• It can differentiate between carriers and affected individuals through trio analysis of parents and child, aiding in precise diagnoses.
• The test could replace invasive and time-consuming functional tests, reducing diagnostic delays and healthcare costs globally.
• Researchers aim to implement the test in clinical labs worldwide, with potential to benefit thousands of families each year.