Article
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
American journal of medical genetics. Part A - 1 Jun 2023
Hernandez Patricia V, King Katherine A, Evenson Michael J, Corliss Meagan M, Schroeder Molly C, Heusel Jonathan W, Neidich Julie A, Cao Yang
Abstract excerpt
Arteriovenous malformations (AVMs) are vascular lesions in which an overgrowth of blood vessels of varying sizes develops with one or more direct connections between the arterial and venous circulation. We performed a retrospective review of a cohort of 54 patients with AVMs referred to our clinical genomic laboratory for high-depth next-generation sequencing (NGS) panel of Disorders of Somatic Mosaicism (DoSM)....
Topics
- Humans
- Female
- Male
- Mutation
- Arteriovenous Malformations
- Germ-Line Mutation
- Chromosome Aberrations
- High-Throughput Nucleotide Sequencing
- p120 GTPase Activating Protein