Test Code: PNL298

Genes: CLCNKB, HNF1B, KCNJ10, SLC12A3 (0 genes)

Sample Type: Blood in EDTA

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Room Temperature - To receive in the lab the next day

Price: 1600

Description:
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?