GITELMAN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Gitelman Syndrome panel is designed for the genetic diagnosis of this autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria, resulting from a defect in the distal tubule NaCl cotransporter. Clinically, it manifests with muscle weakness, cramps, fatigue, hypotension, and arrhythmias, and can be diagnosed in adolescence or adulthood. The study includes the SLC12A3 and CLCNKB genes, responsible for the majority of cases. Identifying these genes allows for diagnostic confirmation, differentiation from other salt-wasting syndromes such as Bartter syndrome, optimization of treatment, and provision of family genetic counseling. Key genes analyzed: SLC12A3, CLCNKB, and others.
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