Deutsch
IllnessDent syndrome, differential diagnosis
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)
23,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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
N25.8
Bioinformatics and clinical interpretation
No text defined