Disorders

Glucocorticoid-Remediable Aldosteronism

Synonym(s): Aldosteronism, Sensitive to Dexamethasone, Familial Hyperaldosteronism Type 1, Glucocorticoid-Suppressible Hyperaldosteronism

OMIM

Gene	Locus	Protein
CYP11B2	8q21-q22	Cytochrome P450 11B2

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Targeted mutation analysis
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain	• Targeted mutation analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Targeted mutation analysis
Ruhr University, Human Genetics - Bochum, Germany
University of Berne - Inselspital, Molecular Hypertension Laboratory - Berne, Switzerland	• Mutation scanning of the entire coding region • Targeted mutation analysis • Enzyme assay • Protein analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.