Disorders


 

Glucocorticoid-Remediable Aldosteronism


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

 

OMIM

GeneLocusProtein
CYP11B28q21-q22Cytochrome P450 11B2, mitochondrial

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• Sequence analysis of the entire coding region
  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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.

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