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 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.
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 firstname.lastname@example.org