BARTTER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 56 genes

The Bartter Syndrome panel is designed for the genetic diagnosis of inherited disorders of renal tubular transport of sodium, potassium, and chloride, characterized by metabolic alkalosis, hypokalemia, secondary hyperaldosteronism, hyperreninemia, and normal or low blood pressure. These disorders result from defects in the cotransporters and ion channels of the loop of Henle or distal tubule and can manifest from the neonatal period to adulthood, with varying degrees of dehydration, growth retardation, nephrocalcinosis, and hearing impairment. The panel includes genes responsible for classic Bartter subtypes such as SLC12A1, KCNJ1, CLCNKB, BSND, and CASR, as well as genes involved in complex or overlapping forms with other tubulopathies, such as GNA11, HNF1B, CLDN16, CLDN19, ATP6V0A4, ATP6V1B1, NR3C2, and WNK1-WNK4. Also included are ciliopathic genes and tubular transport modulators that may contribute to mixed phenotypes or Bartter syndromes with extrarenal involvement. Identifying pathogenic variants allows for diagnostic confirmation, classification of the genetic subtype, guidance of treatment with anti-inflammatory drugs, potassium supplements, or spironolactone, and facilitates family genetic counseling. Key genes analyzed include: SLC12A1, KCNJ1, CLCNKB, BSND, CASR, CLDN16, CLDN19, HNF1B, NR3C2, WNK1, WNK4, and others. A complete list of analyzed genes can be obtained by contacting Genotica.