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New Blood Test Revolutionizes Diagnosis of Rare Genetic Diseases in Children

The proteomic test, requiring just 1 milliliter of blood, delivers results in under three days and identifies 83% of confirmed cases, offering faster, less invasive diagnoses.

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Overview

  • The test, developed by researchers at the University of Melbourne, analyzes over 8,000 proteins to diagnose thousands of rare genetic diseases in infants and children.
  • It provides functional evidence for genetic variants, aiding in the diagnosis of cases where DNA sequencing results are inconclusive.
  • The minimally invasive test requires only 1 milliliter of blood and can deliver results in less than three days, making it particularly valuable for urgent cases.
  • Trio analysis, which includes testing parents' blood samples, improves differentiation between carriers and affected individuals in recessive conditions.
  • The test has the potential to replace multiple functional tests, reducing diagnostic time, healthcare costs, and the need for invasive procedures.