Useful For

As an adjunct biomarker in the prenatal diagnosis of disorders of fetal steroid metabolism, including Smith-Lemli-Opitz syndrome (1,2) and X-linked ichthyosis (placental sulfatase deficiency disorders)

Evaluating primary or secondary fetal adrenal insufficiency after excluding other rare single gene defects, including aromatase deficiency, 17 alpha-hydroxylase deficiency and/or various forms of congenital adrenal hyperplasia