Test Code: PNL298
Gitelman syndrome
Nephrology
Gitelman syndrome is a rare autosomal recessive salt‑wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It results from defects in the thiazide‑sensitive NaCl co‑transporter (NCC) in the distal convoluted tubule of the kidney. Mutations in four genes have been implicated, with SLC12A3 being the most common cause. Genetic testing enables accurate diagnosis and differentiation from related conditions such as Bartter syndrome.
Would you like me to also prepare a short comparison summary between Bartter and Gitelman syndromes, highlighting their overlapping features and key differences?
Would you like me to also prepare a short comparison summary between Bartter and Gitelman syndromes, highlighting their overlapping features and key differences?
Sample Type
Blood in EDTA
Turnaround Time
3 weeks days
Courier Requirements
Room Temperature - To receive in the lab the next day
Pricing
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Genes Analyzed
4 genes
CLCNKB
HNF1B
KCNJ10
SLC12A3
Methodology
Capture-based target enrichment and Next Generation Sequencing
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