Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management

The prompt and correct identification of the causative gene variant in those uncertain phenotype or complex cases of patients affected by vascular anomalies is of inestimable value in order to provide the appropriate clinical management, monitoring, and treatment of patients. Genetic testing by next-generation sequencing of blood DNA or tissue DNA could be fundamental in helping clinicians determine the right disease and take the appropriate therapeutic decision. The identification of variants could provide prognostic or therapeutic information, directing a personalized patient care with development of specific small-molecule therapies, with the aim of increasing efficacy of traditional therapeutic methods.