Genetic testing for vascular anomalies

Paolacci, Stefano; Rakhmanov, Yeltay; Maltese, Paolo Enrico; Fanelli, Francesca; Mattassi, Raul Ettore; Amato, Bruno; Bertelli, Matteo

doi:10.2478/ebtj-2018-0030

Abstract

Vascular anomalies (VAs) have phenotypic variability within the same entity, overlapping clinical features between different conditions, allelic and locus heterogeneity and the same disorder can be inherited in different ways. Most VAs are sporadic (paradominant inheritance or de novo somatic or germline mutations), but hereditary forms (autosomal dominant or recessive) have been described. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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Genetic testing for vascular anomalies

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