Test Code: PNL022
Bartter syndrome (7 Genes)
Nephrology
Bartter syndrome is a rare inherited disorder of the kidney’s thick ascending limb of the loop of Henle. It is characterised by impaired salt reabsorption, leading to salt‑wasting, hypokalemia, and metabolic alkalosis. The condition results from defects in multiple transporters involved in tubular ion handling, with at least seven genes implicated across different subtypes. Genetic panel testing enables precise diagnosis, helps distinguish Bartter syndrome from overlapping tubulopathies such as Gitelman syndrome, and supports tailored clinical management.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
7 genes
BSND
CASR
CLCNKA
CLCNKB
KCNJ1
SLC12A1
SLC12A3
Methodology
Capture-based target enrichment and Next Generatio...
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