Disorders

Corticosterone Methyloxidase Type I Deficiency

Synonym(s): Aldosterone Deficiency I, Aldosterone Synthase Deficiency, Hyperreninemic Hypoaldosteronism, Familial, 1, Steroid 18-@Hydroxylase Deficiency, Steroid 18-Hydroxylase Deficiency

OMIM

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

Laboratory	Test Method	Prenatal	Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
Ruhr University, Human Genetics - Bochum, Germany	• Sequence analysis of the entire coding region
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain	• Sequence analysis of the entire coding region • Analyte

^* 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.