|Category||Biochemistry >> Metabolic|
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.
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
For enquiries regarding these tests please contact Dr Emma Walker on 020 331 35921 or [email protected]