CAPILLARY MALFORMATION–ARTERIOVENOUS MALFORMATION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Capillary Malformation-Arteriovenous Malformation Syndrome panel analyzes two genes associated with this inherited vascular disorder characterized by the presence of multiple cutaneous capillary patches and progressively developing arteriovenous malformations. These lesions can be located in the skin, muscle, or central nervous system and carry a risk of bleeding or neurological complications. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows the study of genes that regulate angiogenesis and endothelial signaling. Some of the genes included in this panel are EPHB4 and RASA1.
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