MARFAN SYNDROME, THORACIC AORTIC ANEURYSM AND RELATED DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 77 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Marfan Syndrome and Related Disorders panel analyzes 77 genes linked to inherited aortopathies and connective tissue dysplasias, characterized by aortic aneurysms and dissections, as well as skeletal, ocular, and cutaneous manifestations. Using next-generation sequencing (NGS) with simultaneous detection of single-cell variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), the study identifies alterations in genes involved in the TGF-β signaling pathway, collagen and elastin synthesis, and the structural integrity of the vascular wall. Key genes include: FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, COL3A1, ACTA2, MYH11, MYLK, LOX, SKI, and TNXB. The complete list of genes included in the panel can be obtained by contacting Genotica.
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