NEPHROTIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 102 genes

The Nephrotic Syndrome panel is designed for the genetic diagnosis of hereditary forms of proteinuria and congenital or corticosteroid-resistant nephrotic syndrome, characterized by massive proteinuria, hypoalbuminemia, edema, and progressive glomerular dysfunction. These diseases result from structural or functional defects of the podocyte, the glomerular basement membrane, or the filtration complex, and can present in childhood or adulthood with variable progression to chronic kidney disease. The study includes genes responsible for primary podocyte disorders such as NPHS1, NPHS2, ACTN4, TRPC6, INF2, MYO1E, ANLN, and MAGI2; type IV collagen genes involved in Alport syndrome or collagenous glomerulopathies (COL4A3, COL4A4, COL4A5, COL4A6); complement and immunoregulatory genes (CFH, CFI, C3, CFB, CD46, DGKE, THBD); and associated mitochondrial or metabolic genes (COQ2, COQ6, PDSS2, LCAT, GLA, MPV17). Genetic analysis allows for establishing the etiological cause, optimizing therapeutic management by avoiding ineffective immunosuppression, guiding renal prognosis and transplant suitability, and facilitating family genetic counseling. Key genes analyzed: NPHS1, NPHS2, ACTN4, TRPC6, INF2, COL4A3, COL4A4, COL4A5, CFH, CFI, C3, DGKE, COQ2, COQ6, LCAT, and others. For a complete list of analyzed genes, please contact Genotica.