Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies
Tara K Lane, Timothy E. Green, Denisse Garza, Natasha J. Brown, M. De Silva, Mark F. Bennett, Caitlin Tubb, Sian Macdonald, Adam Gascoigne, R Phillips, John Slavin, Colleen E. D’Arcy, Duncan P MacGregor, Amelia Clifford, Lydia Pathmanathan, , Michael S. Hildebrand
The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.
medRxiv · Aug 17, 2026 · PreprintGenetic & Genomic Medicine