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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHypourikaemia, renal; differential diagnosis

Request form illness

Summary

Short information

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

ID
HP1040
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
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
SLC22A121560AR
SLC2A91536AD, 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

 

Synonyms
  • 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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E79.9

Bioinformatics and clinical interpretation

No text defined