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.
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 UCL Hospital Adrenal Steroid Genetics Laboratory