P594: Tissue is the issue: Comparison of diagnostic yield between blood and tissue-based genetic testing in individuals with vascular anomalies

Genetics in Medicine Open 2026 Open access

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Authors: Cate Randall Paschal, Leonid Yermakov, Susan Schowalter, Jaya Narayanan, Kylie J. Nelson, Larissa Rogge, Louisa Emery, Will Tobin, James Bennett, Nya D. Nelson
DOI: 10.1016/j.gimo.2026.104085
Cited by: 0

Abstract

Vascular anomalies are a heterogeneous group of disorders involving abnormal blood vessel growth and development, which can be grouped into two major categories according to the International Society for the Study of Vascular Anomalies (ISSVA): vascular tumors and vascular malformations. Molecular testing can be helpful in making a specific diagnosis and can directly guide options for targeted therapy, such as the use of alpelisib for individuals with PIK3CA-related overgrowth spectrum. More than fifty genes have been implicated in vascular anomalies, many demonstrating somatic mosaicism.

Fields of Study & Subjects

Vascular Malformations and Hemangiomas Genomics and Rare Diseases Genetic and rare skin diseases.

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104085–104085
Publication date
1 January 2026
Language
EN