Use

This test is used for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with personal or family history of 21-hydroxylase deficiency. It serves as a follow-up to positive CAH newborn screens and measurement of basal and adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone, androstenedione, and other adrenal steroid levels. The test may identify CYP21A2 variants in individuals with a suspected diagnosis when a common variant panel is negative or only identifies one variant. It also assists in the evaluation of 21-hydroxylase deficiency in prenatal cases.