Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ATP6V1B1 gene encodes a component of the proton pump, which is present in various organs and organelles. The renal variety of the proton pump eliminates acids from the body. If this gene is mutated, renal proton excretion is impaired and acidosis ensues.
| 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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