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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessDent syndrome, differential diagnosis

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Summary

Short information

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

ID
DP0230
Number of genes
4 Accredited laboratory test
Examined sequence length
5,0 kb (Core-/Core-canditate-Genes)
23,4 kb (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-GReferenz-Seq.Heredity
CLCN52241NM_000084.5XLR
OCRL2706NM_000276.4XLR
ATP7B4398NM_000053.4AR
LRP213968NM_004525.3AR

Informations about the disease

Clinical Comment

Renal tubular disease with proximal tubule dysfunction

DD: Donnai-Barrow syndrome, LRP2 gene

 

Synonyms
  • Alias: Nephrolitiasis, hypercalciuric, XL
  • Alias: Urolithiasis, hypercalciuric, XL
  • Allelic: Hypophosphatemic rickets (CLCN5)
  • Allelic: Lowe syndrome, Oculocerebrorenal syndrome of Lowe (OCRL)
  • Allelic: Nephrolithiasis, type I (CLCN5)
  • Allelic: Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
  • Dent disease 2 (OCRL)
  • Dent disease [1] (CLCN5)
  • Donnai-Barrow syndrome [faciooculoacousticorenal] (LRP2)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined