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

IllnessHypocitraturia, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Hypocitraturia comprising 4 curated genes according to the clinical signs

Number of genes
4 Accredited laboratory test
Examined sequence length
6,9 kb (Core-/Core-canditate-Genes)
10,6 kb (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
SLC4A12736NM_000342.4AD, AR

Informations about the disease

Clinical Comment

Citrate inhibits the formation of kidney stones. In patients suffering from kidney stones, a low citrate level in the urine can be detected in 20-60% of cases (hypocitraturia). The cause of hypocitraturia is usually idiopathic, but can also be influenced by various other factors, including renal tubular acidosis, hypokalemia, diet and genetic causes.

This panel examines the most common genetic causes of hypocitraturia and renal tubular acidosis. Because the pathogenesis is not fully understood, a normal finding does not rule out the presence of a genetic cause for hypocitraturia.

(Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777061/)


  • Distal renal tubular acidosis 1 (SLC4A1)
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
  • Distal renal tubular acidosis 3, with/-out sensorineural hearing loss (ATP6V0A4)
  • Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
  • Distal renal tubular acidosis, AR [genecards] (SLC4A2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined