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21-Deoxycortisol is a marker for the 21-hydroxylase deficiency (congenital adrenal hyperplasia [CAH]). The steroid is less than 10 in 98% of subjects without known CYP21A2 gene deficiency. 21-Deoxycortisol has been reported to be elevated in late-onset CAH.1 21-Deoxycortisol has been reported 2 to be elevated after ACTH stimulation in samples from patients that are heterozygous for CYP21A2 gene mutations and from patients with nonclassical CAH.
High-pressure liquid chromatography (HPLC)/tandem mass spectrometry (MS-MS)
Serum (preferred) or plasma, frozen
0.3 mL (Note: This volume does not allow for repeat testing.)
Serum or plasma must be separated from cells within two hours of venipuncture. Submit serum or plasma in a plastic transport tube.
Causes for Rejection
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|504045||21 Deoxycortisol, LCMS||504046||21 Deoxycortisol, LCMS||ng/dL||74872-3|