<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>de novo</italic> 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.</p></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.

Genetic testing for vascular anomalies

Center for Vascular Malformations, “Stefan Belov”, Clinical Institute Humanitas “Mater Domini”

Department of Clinical Medicine and Surgery

The EuroBiotech Journal

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Genetic testing for vascular anomalies"}

Vascular anomalies (VAs) have phenotypic variability within the same entity, overlapping clinical features between different conditions, allelic and locus...

Genetic testing for vascular anomalies

Article Category: Technical Report

Pubblicato online: 19 set 2018

Pagine: 26 - 31

DOI: https://doi.org/10.2478/ebtj-2018-0030

Parole chiave
Vascular anomalies, germline mutations, somatic mutations, EBTNA UTILITY GENE TEST

© 2018 Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese, Francesca Fanelli, Raul Ettore Mattassi, Bruno Amato, Matteo Bertelli, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Genetic testing for vascular anomalies

Article Category: Technical Report

Pubblicato online: 19 set 2018

Pagine: 26 - 31

DOI: https://doi.org/10.2478/ebtj-2018-0030

Parole chiaveVascular anomalies, germline mutations, somatic mutations, EBTNA UTILITY GENE TEST

© 2018 Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese, Francesca Fanelli, Raul Ettore Mattassi, Bruno Amato, Matteo Bertelli, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Vascular anomalies, germline mutations, somatic mutations, EBTNA UTILITY GENE TEST