COLLAGENOPATHIES / CONNECTIVE TISSUE DISEASES: CLINICAL EXOME PANEL (Sec. & CNVs) – 194 genes

The Collagenopathies and Connective Tissue Disorders panel offers analysis of 194 genes associated with a broad spectrum of inherited connective tissue disorders, including Ehlers-Danlos, Marfan, and Loeys-Dietz syndromes, cutis laxa, osteogenesis imperfecta, and collagen dysplasias. These diseases are characterized by skin fragility, joint hypermobility, and vascular, skeletal, and visceral abnormalities, with significant genetic and clinical heterogeneity. Using next-generation sequencing (NGS) with simultaneous detection of single-cell variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs), this panel enables comprehensive molecular evaluation, facilitating differential diagnosis and guiding clinical management. The study includes genes involved in collagen and elastin synthesis and maturation (COL1A1, COL3A1, COL5A1, ELN, LOX), microfibril formation and the TGF-β pathway (FBN1, TGFB2, TGFBR1, TGFBR2), as well as extracellular matrix biogenesis and connective tissue metabolism (PLOD1, ADAMTS2, TNXB, ZNF469). Identifying the causative variant contributes to accurate diagnosis, family genetic counseling, and personalized treatment planning. The complete list of genes included in the panel can be obtained by contacting Genotica.