HYPOMAGNESEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 21 genes

The Hypomagnesemia panel analyzes 21 genes associated with the genetic diagnosis of hereditary forms of magnesium deficiency, a metabolic disorder that can manifest with tetany, seizures, muscle weakness, arrhythmias, secondary hypocalcemia, and hypokalemia. These alterations result from defects in renal tubular reabsorption or intestinal absorption of magnesium and can occur in isolation or in the context of complex syndromes with neurological, endocrine, or renal involvement. The study includes genes involved in the regulation of transcellular and paracellular magnesium transport, such as CLDN16, CLDN19, TRPM6, TRPM7, CNNM2, CNNM4, and FXYD2, as well as genes related to channelopathies, calcium signaling defects, and alterations in renal or tubular development, such as CASR, CLCNKB, BSND, HNF1B, KCNJ10, and SLC12A3. Identifying pathogenic variants allows for molecular diagnosis confirmation, guides therapeutic management with specific supplements, prevents neuromuscular and cardiac complications, and provides family genetic counseling. Key genes analyzed include: BSND, CASR, CLDN16, CLDN19, CNNM2, CNNM4, FXYD2, HNF1B, TRPM6, TRPM7, and others. A complete list of analyzed genes can be obtained by contacting Genotica.