EHLERS-DANLOS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 61 genes

The Ehlers-Danlos Syndrome (EDS) panel allows for the analysis of 61 genes involved in the various clinical subtypes of this inherited connective tissue disorder, characterized by joint hypermobility, skin fragility, vascular abnormalities, and musculoskeletal involvement. Using next-generation sequencing (NGS) with simultaneous detection of point variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), this panel offers a comprehensive molecular evaluation of the classic, vascular, hypermobile, kyphoscoliotic, and musculocontracture forms, as well as overlapping entities within the spectrum of inherited collagen and elastin disorders. The study includes genes involved in collagen synthesis and assembly (COL1A1, COL3A1, COL5A1, COL5A2, PLOD1, FKBP14), extracellular matrix biogenesis (ADAMTS2, CHST14, B4GALT7, B3GAT3, AEBP1), and the TGF-β signaling pathway (FBN1, TGFBR1, TGFBR2, TNXB). Identifying the causative variant allows for confirmation of the genetic subtype, guides individualized clinical management, assesses vascular or joint risk, and facilitates family and reproductive genetic counseling. Key genes include: COL3A1, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, FBN1, ELN, TGFBR1, TGFBR2, TNXB, and ZNF469. The complete list can be obtained by contacting Genotica.