IllnessGlucosuria, renal
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
SLC5A2 | 2019 | NM_003041.4 | AR, AD |
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.
- AD
- AR
OMIM-Ps
ICD10 Code
E74.8
Bioinformatics and clinical interpretation
No text defined