Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Testing

21-hydroxylase deficiency congenital adrenal hyperplasia (21-OHD CAH) is subdivided into classic and nonclassic forms. Classic 21-OHD CAH is usually diagnosed in infancy and may take either a simple virilizing or salt-wasting form. Laboratory testing, including serum hormone and electrolyte measurements, with or without molecular genetic testing, is key to the diagnosis of classic 21-OHD CAH.

Refer to ARUP Laboratories’ test offerings below.

ARUP Laboratory Tests

Components include androstenedione; 17-OHP; 17-hydroxypregnenolone, quantitative by LC-MS/MS; and dehydroepiandrosterone​

Components include 11-deoxycortisol, quantitative; 17-OHP, quantitative by MS/MS; 17-hydroxypregnenolone, quantitative by MS/MS; and pregnenolone by MS/MS