Aldosterone Synthase Deficiency

Laboratories

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) Note: per gene (CYP11B2)	Postnatal Diagnosis Routine	London Charing Cross Hospital	28	£550
Sequencing of selected exons	Prenatal Diagnosis	London Charing Cross Hospital	3	£450
Sequencing of selected exons Note: per exon	Postnatal Diagnosis Routine	London Charing Cross Hospital	28	£70
Sequencing of selected exons Note: per exon	Postnatal Diagnosis Urgent	London Charing Cross Hospital	14	£70
Targeted mutation analysis	Prenatal Diagnosis	London Charing Cross Hospital	3	£450
Targeted mutation analysis Note: per exon	Postnatal Diagnosis Routine	London Charing Cross Hospital	28	£70
Targeted mutation analysis Note: per exon	Postnatal Diagnosis Urgent	London Charing Cross Hospital	14	£70
Testing for known mutations in family members Note: per exon	Postnatal Diagnosis Routine	London Charing Cross Hospital	28	£70

Genes & Disorders

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

Testing Criteria & Gene Dossiers

Testing criteria	Aldosterone Synthase Deficiency

Gene dossier	Aldosterone Synthase Deficiency London UCLH Biochemistry

Specialties

Specialties	Clinical Genetics Endocrinology, Adult Endocrinology, Paediatric

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