21-Deoxycortisol, LC/MS (Endocrine Sciences)

CPT: 82542
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Test Details

Use

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.

Methodology

High-pressure liquid chromatography (HPLC)/tandem mass spectrometry (MS-MS)

Specimen Requirements

Specimen

Serum (preferred) or plasma, frozen

Volume

1 mL

Minimum Volume

0.3 mL (Note: This volume does not allow for repeat testing.)

Collection

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

Storage Instructions

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

Causes for Rejection

Gross hemolysis

Clinical Information

Footnotes

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. 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. 20846292

LOINC® Map

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
504045 21 Deoxycortisol, LCMS 504047 21-Deoxycortisol, LCMC N/A

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