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

IllnessHypourikaemia, renal; differential diagnosis


Short information

2 curated single gene sequence analyses for the differential diagnosis according to the clinical suspicion Hypourikemia, renal

Number of genes
2 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
SLC2A91536NM_001001290.2AD, AR

Informations about the disease

Clinical Comment

Renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia, predisposing to urolithiasis, exercise induced acute renal failure


  • Nephrolithiasis + exercise-induced acute renal failure in ~10%
  • Alias: Hereditary renal hypouricemia
  • Allelic: Cystinosis, ocular nonnephropathic (CTNS)
  • Cystinosis, atypical nephropathic (CTNS)
  • Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
  • Cystinosis, nephropathic (CTNS)
  • Hypouricemia, renal (SLC22A12)
  • Hypouricemia, renal, 2 (SLC2A9)
  • Uric acid concentration, serum, QTL 2 (SLC2A9)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined