IllnessGlucosuria, renal

Request form illness

Summary

Short information

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

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

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SLC5A2	2019	182381	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.

OMIM-Ps

233100

ICD10 Code

E74.8

Bioinformatics and clinical interpretation

No text defined