Aldosterone Synthase Deficiency

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Corticosterone Methyloxidase Type I Deficiency 18-@hydroxylase Deficiency Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase Aldosterone Deficiency I Cmo I Deficiency Hyperreninemic Hypoaldosteronism, Familial, 1 Steroid 18-@hydroxylase Deficiency	FHHA1A	203400	Genetic Test Registry
Corticosterone Methyloxidase Type II Deficiency 18-@oxidase Deficiency Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase Aldosterone Deficiency II Cmo II Deficiency Steroid 18-Oxidase Deficiency		610600	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
cytochrome P450, family 11, subfamily B, member 2 aldosterone deficiency due to deficiency of 18-hydroxysteroid dehydrogenase, included aldosterone deficiency II, included aldosterone synthase CMO II deficiency, included corticosterone methyl oxidase type II deficiency, included cytochrome P450, family 11, subfamily B, polypeptide 2 cytochrome p450, subfamily XIB, polypeptide 2 hyperreninemic hypoaldosteronism, familial, 1, included steroid 11-beta-hydroxylase	CYP11B2 ALDOS CPN2 CYP11B CYP11BL FHHA1 P-450C18 P450ALDO	124080	2592

Gene dossier	Aldosterone Synthase Deficiency London UCLH Biochemistry

Testing criteria	Aldosterone Synthase Deficiency

Specialties	Clinical Genetics Endocrinology, Adult Endocrinology, Paediatric

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	London UCLH Biochemistry	30	440
Testing for known mutations in family members Note: per genotype	Postnatal Diagnosis Routine	London UCLH Biochemistry	15	70
Testing for known mutations in family members	Prenatal Diagnosis	London UCLH Biochemistry	10	450

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