Steroid Genetics
| Category | Biochemistry >> Metabolic |
|---|---|
| Test background |
Mutations in the genes in the steroid biosynthetic pathway lead to various inherited endocrine disorders. We offer whole gene sequencing of a number of genes in the steroid biosynthetic pathway. This includes the genes associated with the rarer forms of CAH including 11-beta hydroxylase, 17-alpha-hydroxylase, 3-beta hydroxy steroid dehydrogenase and aldosterone synthase deficiencies. Sequencing of several genes associated with DSD including 17-beta hydroxy steroid dehydrogenase, 5-alpha reductase are also available. |
| Clinical Indications |
Inherited disorders of steroid endocrinology may present with adrenal and/or gonadal manifestations. DNA testing is therefore targeted according to the clinical picture and the findings of biochemical endocrine testing. |
| Sample & container required | 5 ml whole blood EDTA (purple top) or locally extracted DNA 20 mg of well dissected chorionic villus sample |
| Transport storage | Ship at ambient temperature. |
| Turnaround time | Targeted screening for known family mutations 10 days; Whole gene sequencing 28 days |
| Notes | For enquiries regarding these tests please contact Dr Emma Walker on 020 331 35921 or [email protected] |