Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The transporter manages tubular glucose reabsorption. If this function is impaired the renal glucose threshold is decreased and glucosuria results even if the plasma glucose level is normal.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
None (2001) Renal Na(+)-glucose cotransporters. 
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| 2. |
Calado J et al. (2006) Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.
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| 3. |
NCBI article NCBI 6524
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| 4. |
OMIM.ORG article Omim 182381
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| 5. |
Orphanet article Orphanet ID 119697
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| 6. |
Wikipedia article Wikipedia EN (SGLT2)
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