FAMILIAL BICUSPID AORTIC VALVE: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
The Familial Bicuspid Aortic Valve (BAV) panel analyzes four genes associated with this congenital heart defect, characterized by the presence of two aortic valve leaflets instead of three, which predisposes to stenosis, valvular insufficiency, and ascending aortopathy. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the study identifies variants in genes involved in valve morphogenesis, the TGF-β signaling pathway, and early cardiac development. Genes included: NOTCH1, GATA5, NKX2-5, and SMAD6.
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Delivery time
3-4 weeks
Sample
Blood
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