Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mature anion exchange protein is located in the luminal membrane of distal tubular cells and erythrocytes. If defective, distal renal tubular acidosis and ovalocytosis may result.
| 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 |
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