Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The sodium bicarbonate cotransporter encoded by the gene is located in the proximal tubules of the kidney. Dysfunction leads to proximal renal tubular acidosis.
| 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 | 25 days | |
| Specimen type | genomic DNA |
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