Article

Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies

2026-08-14

Abstract excerpt

Targeted precision therapies are increasingly used in the treatment of individuals with vascular anomalies (VAs). This increases the need for rapid, accurate and inexpensive genetic diagnosis. Droplet digital polymerase chain reaction (ddPCR) is an alternative to next-generation sequencing (NGS), permitting rapid, highly sensitive interrogation of recurrent pathogenic mosaic variants. We examined the feasibility o...

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Literature Corpus work: 29590a41-ea11-5e89-87e2-e083cc8caac0
DOI: 10.64898/2026.08.11.26359368

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