Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Cortisol 11-beta-ketoreductase

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.

Genetests:

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 Methylation test
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Apparent mineralocorticoid excess
HSD11B2
Update:
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