Disorders

Apparent Mineralocorticoid Excess Syndrome

Synonym(s): AME, AME1, Cortisol 11-Beta-Ketoreductase Deficiency

Gene	Locus	Protein
HSD11B2	16q22	Corticosteroid 11-beta-dehydrogenase isozyme 2

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Berne - Inselspital, Molecular Hypertension Laboratory - Berne, Switzerland	• Sequence analysis of select exons • 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.