Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene encodes aldosteron synthase, an essential enzyme in aldosteron production. Loss of function mutations result in congenital hypoaldosteronism, gain of function mutations lead to hypertension and suppressed renin.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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