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CAH Profile 1 (21-Hydroxylase Deficiency Screen)

Congenital Adrenal Hyperplasia Profile, 21-hydroxylasedeficiency, 21-OH deficiency

Test Codes

EPIC: LAB5988, Beaker: XCAH1, Mayo (custom panel)

Department

Send Outs

Instructions

This profile includes: Androstenedione, Cortisol, DHEA, Testosterone, and 17-OH-Progesterone.

Specimen Collection Criteria

Collect: One plain Red-top tube.

Do not use Serum Separator Tubes.

Physician Office/Draw 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). (Minimum: 1.0 mL)

Rejection Criteria

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

In-Lab Processing

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.

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

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): unacceptable
Refrigerated (2-8°C or 36-46°F): 14 days
Frozen (-20°C/-4°F or below): 28 days

Specimen Storage in Department Prior to Disposal:

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

Laboratory

Sent to Mayo Clinic Laboratories in Rochester, MN.

Performed

Varies.
Results available within 4-7 days.

Reference Range

By report.

Test Methodology

Liquid Chromatography-Tandem Mass Spectrometry (LC-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 Codes

82157, 82533, 82626, 83498, 84403.

Contacts

Last Updated

9/12/2023