Congenital adrenal hyperplasia comprises inherited disorders of adrenal steroidogenesis that may impair cortisol, aldosterone, and/or androgen synthesis or action. Clinical manifestations may include adrenal insufficiency, salt-wasting, atypical genital development, virilization, premature adrenarche, menstrual abnormalities, and infertility.

This panel includes genes associated with the major forms of congenital adrenal hyperplasia as well as related disorders of adrenal steroidogenesis and inherited adrenal insufficiency.

This panel is recommended for patients with suspected congenital adrenal hyperplasia, abnormal newborn screening results, unexplained adrenal insufficiency, abnormal steroid profiles, atypical genital development, or other findings suggestive of an inherited disorder of adrenal steroid synthesis.