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

IllnessGlucosuria, renal

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion renal glucosuria

ID
GS0220
Number of genes
1 Accredited laboratory test
Examined sequence length
2,1 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
SLC5A22019AR

Informations about the disease

Clinical Comment

Glucose transport disorder with persistent isolated glucosuria, no proximal tubular dysfunction + hyperglycemia; mostly benign, occasionally polyuria, enuresis, mild growth + pubertal maturation delay, hypercalciuria, aminoaciduria, in severe cases more urinary infections, episodic dehydration, ketosis during pregnancy, starvation

 

Synonyms
  • Alias: Familial renal glucosuria; SGLT2 deficiency (SLC5A2)
  • Alias: Renal glucosuria (SLC5A2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code
E74.8

Bioinformatics and clinical interpretation

No text defined