Overview

• The assay measures over 8,000 proteins in peripheral blood mononuclear cells, covering more than half of known Mendelian and mitochondrial disease genes.
• The test requires one milliliter of blood and delivers results in under three days, offering a minimally invasive alternative to biopsies and targeted assays.
• Trio analysis differentiates carriers from affected children in recessive conditions by comparing patient samples with parental protein profiles.
• Early validation trials reported around 83% accuracy in identifying confirmed rare inherited diseases.
• Researchers are recruiting about 300 patients across diverse genetic disorders to expand validation and pave the way for clinical adoption.