Assays / Hormones / Steroid Profile (genetics)

Genetic testing for disorders of adrenal and gonadal steroidogenesis

DNA analysis is available for the following disorders of steroidogenesis:
CYP17 17 alpha-hydroxylase deficiency
CYP11B1 11 beta-hydroxylase deficiency
CYP11B2 aldosterone synthase deficiency
HSD17B3 17 beta-hydroxysteroid dehydrogenase deficiency
SRD5A2 5 alpha-reductase deficiency.

Sample requirements
For all genetic tests either a DNA sample or 4 mL whole blood collected into EDTA is required (2 mL usually adequate for a child). Consent for the test should be sought and sent with the sample. Forms are available if required. Please provide clinical and biochemical information to support the suspected diagnosis.

Centres offering this assay
London (UCLH)

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