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Cortisol 11-beta-ketoreductase
Scientific background:
Summary: The enzyme encoded by this gene metabolises cortisol to cortisone in the kidney and thereby prevents excessive mineralocorticoid receptor stimulation by cortisol. Deficiency results in clinical symptoms similar to hyperaldosteronism, which is remediable by dexamethasone suppressing cortisol secretion.
Methodology:
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clinical test |
Method |
Genomic sequencing of the entire coding region |
| Turn-around time |
25 working days |
| Effort |
little |
| Specimen |
DNA |
| Quality assessment |
Internal quality control only |
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All known and new missense, nonsense and splice mutations can be detected. |
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clinical test |
Method |
Carrier testing |
| Turn-around time |
5 working days |
| Effort |
little |
| Specimen |
DNA |
| Quality assessment |
Internal quality control only |
| |
The test is only specific about the mutation already known in this kindred. |
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