AORTOPATHIES / AORTIC DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 65 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Aortopathies and Aortic Disorders panel allows for the detection of pathogenic or likely pathogenic genetic variants associated with aneurysms, dissections, and other connective tissue disorders affecting the aorta. The study is performed using clinical exome sequencing (NGS) with simultaneous analysis of single-cell variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), achieving over 99% coverage of coding regions.
This panel includes 65 genes implicated in aortic dissection predisposition syndromes, such as Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, familial thoracic aneurysm, and fibromuscular dysplasia, among others. Key genes included: FBN1, TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, COL3A1, LOX, PRKG1, NOTCH1, EFEMP2, FLNA, FBLN5, PLOD1, SKI, TNXB, among others.
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