LOEYS-DIETZ SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes

LabGenetics
Caja de LOEYS-DIETZ SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de LOEYS-DIETZ SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes

The Loeys-Dietz Syndrome (LDS) panel analyzes seven genes associated with this inherited aortopathy characterized by early aortic aneurysms and dissections, skeletal and cutaneous manifestations, and, in some cases, craniofacial or immunological involvement. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it identifies alterations in the transforming growth factor beta (TGF-β) signaling pathway, responsible for connective tissue dysfunction and vascular weakness. Key genes include: TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3, and FBN1.

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Custom sequencing panels (1 to 15 genes)

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