21-Deoxycortisol, LC/MS

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Turnaround Time: 6 - 10 days
CPT Code:


Test Type: 1 mL Serum (preferred) or plasma, frozen


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.

1. Fiet J, Gueux B, Gourmelen M, et al. Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia. J Clin Endocrinol Metab. 1988 Apr; 66(4):L659-657. PubMed 2831244

2. Costa-Barbosa FA, Tonetto-Fernandes VF, Carvalho VM, et al. Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency. Clin Endocrinol (Oxf). 2010 Dec; 73(6):700-706. PubMed 20846292

Collection Details:

Collection Instructions:

Serum or plasma must be separated from cells within two hours of venipuncture. Submit serum or plasma in a plastic transport tube.

Freeze. Stable frozen for 14 days. Stable at room temperature or refrigerated for 14 days. Freeze/thaw cycles stable x3.