Gitelman syndrome [1 gene]

Gitelman syndrome is an autosomal recessive genetic tubulopathy characterized by renal salt wasting due to defective sodium chloride cotransporter SLC12A3. The loss of sodium and magnesium leads to loss of muscle strength, fatigue, palpitations, and risk of heart failure. Early genetic diagnosis is critical to accurately diagnose the disease and direct treatment. Between 1% and 3% of patients with clinical features of Gitelman syndrome are monoallelic carriers of mutations in the SLC12A3 gene, which suggests other forms of inheritance or even the presence of mutations in more than one gene related to sodium homeostasis (Bartter syndrome, hypomagnesemia).

• 1/40,000
• 1% of heterozygous variant carriers

Identifying genetic variants causing Gitelman syndrome allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when Gitelman syndrome is suspected, which may include the following clinical characteristics:

• Hypokalemic alkalosis
• Hypomagnesemia
• Hypokalemia
• Polyuria
• Paraesthesias
• Generalized muscle weakness
• Episodic muscle paralysis
• Onset in childhood