RENAL TUBULOPATHIES GLOBAL: CLINICAL EXOME PANEL (Sec. & CNVs) – 113 genes

The Global Renal Tubulopathies Panel is designed for the genetic diagnosis of inherited disorders that affect renal tubule function and impair the reabsorption or secretion of electrolytes, water, and essential metabolites, leading to fluid and electrolyte imbalances, metabolic acidosis or alkalosis, nephrocalcinosis, kidney stones, or progressive renal failure. These diseases encompass a broad spectrum of syndromes, including Bartter, Gitelman, Liddle, Fanconi, pseudohypoaldosteronism, distal or proximal tubular acidosis, hypophosphatemic rickets, and syndromic forms associated with ciliopathies and mitochondrial dysfunction. The study encompasses genes involved in the tubular transport of sodium, potassium, calcium, magnesium, and phosphate (SLC12A1, SLC12A3, SLC34A1, SLC34A3, CLDN16, CLDN19, CASR, TRPM6, TRPM7), in hormonal regulation and acid-base balance (NR3C2, HSD11B2, CYP11B2, ATP6V0A4, ATP6V1B1), in ciliary and structural function of the tubular epithelium (NPHP1, NPHP3, CEP83, TMEM67, TTC21B, WDR19), and in mitochondrial and peroxisomal energy metabolism (COX10, COX14, SCO1, FAH, ETFDH). The identification of pathogenic variants allows for confirmation of the etiological diagnosis, guidance of treatment with specific measures or targeted supplementation, avoidance of unnecessary therapies, and provision of family genetic counseling. Key genes analyzed: SLC12A1, SLC12A3, CLDN16, CLDN19, CASR, TRPM6, ATP6V1B1, HSD11B2, NR3C2, NPHP1, NPHP3, TMEM67, WNK1, WNK4, and others. For a complete list of analyzed genes, please contact Genotica.