Gitelman Syndrome (SLC12A3) Targeted Testing

AKA: Primary Hypomagnesemia-Hypokalemia
Short Name: SLC12A3 Targeted

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is caused by pathogenic variants in the SLC12A3 gene. Two pathogenic variants, c.1924C>G (p.Arg642Gly) and a 8627 bp deletion spanning exons 1-7 of the SLC12A3 gene have been identified in the Amish population and will be analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 263800
MedGen: 75681