RENAL TUBULAR ACIDOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) - 7 genes

The Renal Tubular Acidosis (RTA) panel is designed to identify pathogenic variants associated with different types of distal and proximal renal tubular acidosis, inherited diseases that affect the kidney's ability to maintain acid-base balance. These disorders manifest clinically as hyperchloremic metabolic acidosis, hypokalemia, growth retardation, nephrocalcinosis, kidney stones, and, in severe cases, rickets or osteomalacia. The main diseases assessed include autosomal recessive or dominant distal renal tubular acidosis (ATP6V1B1, ATP6V0A4, SLC4A1), proximal tubular acidosis (SLC4A4), renal tubular acidosis associated with phosphate reabsorption defects (SLC34A1), and combined or syndromic forms that may present with sensorineural hearing loss or pancreatic dysfunction (CA2, HNF4A). The panel analyzes genes involved in the regulation of ion transport, acid-base metabolism, and renal bicarbonate and ammonium homeostasis, offering a precise diagnostic tool that allows for the identification of the type of renal tubular acidosis (RTA) and guides treatment and family counseling. Key genes analyzed include: ATP6V0A4, ATP6V1B1, CA2, HNF4A, SLC34A1, SLC4A1, SLC4A4, and others. The complete panel of studied genes can be obtained by contacting Genotica.