Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11 beta-hydroxylase 1 (CYP11B1) versus 11 beta-hydroxylase 2 (CYP11B2) deficiency
Diagnosis of glucocorticoid-responsive hyperaldosteronism
Evaluating congenital adrenal hyperplasia newborn screen-positive children, when elevations of 17-hydroxyprogesterone are only moderate, suggesting possible 11-hydroxylase deficiency
Morning (8 a.m.) specimen is preferred.
Immediately following collection, mix sample by gently inverting 5 times.
Mix sample by gentle inversion, 5 times
Refrigerated (preferred) – 21 days
Ambient - 7 days
Frozen - 21 days
Gross Hemolysis
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
≤18 years: <30 ng/dL
>18 years: <10 ng/dL