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Beaumont Laboratory

CAH Profile 1 (21-Hydroxylase Deficiency Screen)

Congenital Adrenal Hyperplasia Profile, 21-hydroxylasedeficiency, 21-OH deficiency , LabCorp #501568, Esoterix #500830, EPIC: LAB5988, SOFT: XCAH1


  • This profile includes: Androstenedione, Cortisol, DHEA, Testosterone, and 17-OH-Progesterone.
  • A number of drugs are known to influence endocrine function directly, or to interfere with assay methodology. Whenever possible, physicians should consider discontinuing all drugs, except those necessary to the patient's well-being, several days prior to sample collection. Always note any drugs being administered on the Test Request Form.

Specimen Collection Criteria

Collect: One plain Red-top tube.

Do not use Serum Separator Tubes.

Physician Office/Drawsite Specimen Preparation

Let specimen clot 30-60 minutes then centrifuge to separate serum from cells within 45 minutes of collection. Transfer serum to a plastic transport tube and freeze (-20°C/-4°F or below) immediately.

Preparation for Courier Transport

Transport: 2.0 mL serum, frozen (-20°C/-4°F or below). (Min: 1.0 mL)

Rejection Criteria

  • Serum Separator (SST) tubes.
  • Specimens not collected and processed as indicated.


Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 4 hours
Refrigerated (2-8°C or 36-46°F): 24 hours
Frozen (-20°C/-4°F or below): 90 days

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Sendout Laboratory with any questions.


Sent to LabCorp Esoterix Endocrinology, Calabassas Hills, CA.


Monday, Tuesday, Thursday.
Results available within 4-7 days.

Reference Range

By report.

Test Methodology

High Performance Liquid Chromatography-Tandem Mass Spectrometry (HPLC-MS/MS).

Clinical Utility

This assay aids in the diagnosis of congenital adrenal hyperplasia. 21-Hydroxylase (21-OH) deficiency is the most common form of adrenal hyperplasia. In classical 21-OH deficiency, 17-hydroxyprogesterone (17-OHP) levels are elevated up to 2000 times their normal value and there is little need for stimulation tests. In mild or late onset cases, ACTH stimulation is recommended to amplify defects. If ACTH is not used the samples should be drawn during the morning, since late afternoon 17-OHP levels may fall into the normal range.

CPT Code

82157, 82533, 82626, 83498, 84403.

Test Codes

LabCorp #501568, Esoterix #500830, EPIC: LAB5988, SOFT: XCAH1

Last Updated


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This directory currently reflects information only for specimens collected and/or processed at the Farmington Hills, Grosse Pointe, Royal Oak, and Troy campuses.