HEREDITARY HEMORRHAGIC TELANGIECTASIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Hemorrhagic Telangiectasia (HHT) panel analyzes 10 genes associated with this autosomal dominant angiopathy, characterized by arteriovenous malformations (AVMs), mucocutaneous telangiectasias, and recurrent episodes of epistaxis. Some patients may present with pulmonary, hepatic, or cerebral involvement, with a risk of hemorrhage or arteriovenous fistulas. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies alterations in genes of the TGF-β/BMP signaling pathway, crucial for angiogenesis, vascular remodeling, and endothelial maintenance. Examples of included genes: ENG, ACVRL1, SMAD4, GDF2, BMPR2, EPHB4, ADAM17, RASA1, PTPN14, BMPR1A.
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