Hypomagnesemia [14 genes]

Hereditary hypomagnesemia comprises a group of heterogeneous recessive and dominant disorders in which magnesium homeostasis is altered. Approximately 95% of the filtered magnesium is reabsorbed in the nephron. However, there are defects in genes that encode chloride channels, potassium, and magnesium metabolism genes that can generate a metabolic imbalance and massive loss of this electrolyte.

Genetic disorders that cause inherited hypomagnesemia may include:

• Familial hypomagnesemia with hypercalciuria
• Bartter syndrome
• Gitelman syndrome
• Mitochondrial hypomagnesemia
• Other metabolic syndromes

1/40,000

Identifying genetic variants causing primary hypomagnesemia 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 primary hypomagnesemia is suspected, which may include the following clinical characteristics:

• Hypomagnesemia (<1.8 mg/dL)
• Abdominal pain
• Tubular acidosis
• Astigmatism
• Hematuria
• Hypercalciuria
• Polyuria
• Nephrocalcinosis, nephrolithiasis, kidney failure
• Muscle weakness
• Spasticity and rigidity