FAMILIAL BICUSPID AORTIC VALVE: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes

LabGenetics
Caja de FAMILIAL BICUSPID AORTIC VALVE: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de 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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