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

IllnessFanconi-Bickel syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Fanconi-Bickel syndrome

ID
FS0030
Number of genes
1 Accredited laboratory test
Examined sequence length
1,6 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
SLC2A21575AR

Informations about the disease

Clinical Comment

Glycogen storage disease, deficiency in solute carrier family 2, facilitated glucose transporter member 2, with hepatorenal accumulation leading to severe renal tubular dysfunction + impaired glucose + galactose metabolism

 

Synonyms
  • Allelic: Diabetes mellitus, noninsulin-dependent (SLC2A2)
  • GSD type 11; GSD type XI (SLC2A2)
  • Glycogen storage disease due to GLUT2 deficiency; GSD due to GLUT2 deficiency (SLC2A2)
  • Glycogen storage disease type XI; GSD type XI (SLC2A2)
  • Glycogenosis due to GLUT2 deficiency (SLC2A2)
  • Hepatorenal glycogenosis with renal Fanconi syndrome (SLC2A2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code
E74.0

Bioinformatics and clinical interpretation

No text defined