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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGitelman syndrome


Short information

Curated single gene sequence analysis according to the clinical suspicion Gitelman syndrome

Number of genes
1 Accredited laboratory test
Examined sequence length
3,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Gitelman syndrome is a kidney disease that causes ionic imbalances including potassium, magnesium and calcium. Symptoms usually appear in late childhood or adolescence, including tetany, muscle weakness/cramps, dizziness, salt cravings, paresthesias, fatigue, low blood pressure and chondrocalcinosis. Gitelman syndrome may also increase the risk of cardiac arrhythmias. The symptoms vary widely, even among affected members of the same family, with most patients showing relatively mild signs. Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. The mutations impair the kidneys' ability to reabsorb salt, resulting in salt loss and affecting the reabsorption of potassium, magnesium, and calcium. The mode of inheritance is autosomal recessive. The extended differential diagnosis includes more than a dozen other genes. Therefore, a negative molecular genetic result of the single gene test by no means excludes the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1338/


  • Alias: Familiäre Hypokaliämie-Hypomagnesiämie (SLC12A3)
  • Alias: Hypomagnesemia-hypokaliemia, primary renotubular with hypocalciuria (SLC12A3)
  • Alias: Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria (SLC12A3)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined