Disorders


 

Corticosterone Methyloxidase Type II Deficiency


Synonym(s): 18-Oxidase Deficiency, Aldosterone Deficiency due to Deficiency of Steroid 18-Oxidase, Aldosterone Deficiency II, CMO II Deficiency, Familial Hyperreninemic Hypoaldosteronism 1, FHHA1B, Steroid 18-Oxidase Deficiency

 

OMIM

GeneLocusProtein
CYP11B28q21-q22Cytochrome P450 11B2, mitochondrial

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
• Targeted mutation 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.

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