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

IllnessFanconi-Bickel syndrome

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-GReferenz-Seq.Heredity
SLC2A21575NM_000340.2AR

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

Bioinformatics and clinical interpretation

No text defined