Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of this renal urate transporter cause hypouricemia by hyperuricuria, which results in urate kidney stones.
| 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 | 15 days | |
| Specimen type | genomic DNA |
| 1. |
Capasso G et al. (2005) Uric acid and the kidney: urate transport, stone disease and progressive renal failure. 
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| 2. |
Mount DB et al. (2006) Renal urate transport.
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| 3. |
Orphanet article Orphanet ID 166795
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| 4. |
NCBI article NCBI 116085
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| 5. |
OMIM.ORG article Omim 607096
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| 6. |
Wikipedia article Wikipedia EN (SLC22A12)
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