Defects in Magnesium Homeostasis Gene Panel
Test Overview
The Defects in Magnesium Homeostasis Gene Panel is a comprehensive genetic test designed to identify pathogenic variants in genes involved in magnesium absorption, transport, regulation, and renal handling. It supports the diagnosis of inherited disorders associated with abnormal magnesium levels and unexplained electrolyte disturbances.
Why is this test done?
- Unexplained hypomagnesemia or hypermagnesemia
- Recurrent electrolyte abnormalities
- Renal magnesium wasting
- Muscle cramps, weakness, tremors, or seizures associated with low magnesium
- Growth or developmental abnormalities associated with electrolyte imbalance
- Suspected inherited tubulopathies or metabolic disorders
- Family history of magnesium homeostasis disorders
What does the panel detect?
The panel evaluates multiple genes involved in magnesium homeostasis and may identify variants associated with conditions such as renal magnesium wasting, impaired magnesium reabsorption, and other inherited electrolyte disorders. Depending on the panel, analysis may include sequence variants and selected deletion/duplication changes.
Sample Required
EDTA whole blood
Method
Next-Generation Sequencing (NGS), with variant confirmation and/or deletion-duplication analysis where applicable.
Clinical Significance
Genetic findings can help establish a molecular diagnosis, guide clinical management, support family screening, and assist in genetic counselling.
Important Note
A genetic test result should be interpreted along with clinical findings, biochemical investigations, family history, and other laboratory results. A negative result does not completely exclude a genetic cause.
