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Proteomic test could diagnose thousands of rare genetic diseases

By Inside Precision Medicine  
   May 27, 2025

Researchers at the University of Melbourne have developed a blood test that can analyze thousands of proteins in a single test to search for rare disease markers. The researchers hope that their test could help to identify children and adults with rare diseases more quickly as these individuals often have to wait for as long as five years before they get a diagnosis.

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