Nonclassic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Testing

21-hydroxylase deficiency congenital adrenal hyperplasia (21-OHD CAH) is subdivided into classic and nonclassic forms. Nonclassic 21-OHD CAH is milder than the classic form and is typically diagnosed after infancy. Laboratory testing, including serum hormone and electrolyte measurements, with or without molecular genetic testing, is key to the diagnosis of nonclassic 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