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CONGENITAL ADRENAL HYPERPLASIA (CAH) Profile 2

11 ß-hydroxylase deficiency, Congenital adrenal hyperplasia, 11-OH deficiency

Test Codes

EPIC: LAB1231609, Beaker: XCAH2, MAYO (custom panel)

Department

Send Outs

Instructions

This profile includes: Androstenedione, Cortisol, Deoxycortisol 11, DHEA, Testosterone, 17-OH Progesterone.

Specimen Collection Criteria

Collect: Two plain Red-top tubes.

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 one hour of collection. Transfer serum to a plastic transport tube and freeze (-20°C/-4°F or below) immediately.

Preparation for Courier Transport

Transport: 2.5 mL serum, frozen (-20°C/-4°F or below). (Minimum: 1.2 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 one hour of collection. Transfer serum to a plastic transport tube and freeze (-20°C/-4°F or below) immediately.

Transport: 2.5 mL serum, frozen (-20°C/-4°F or below). (Minimum: 1.2 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 in 3-6 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. 11 ß-hydroxylase (11-OH) deficiency is the second most common form of congenital hyperplasia. It is also associated with virilization, elevation of plasma androstenedione and DHEA-Sulfate, and hypertension.

Serum 11-Desoxycortisol is highly elevated in patients with adrenal hyperplasia due to 11-OH deficiency and provides the most useful marker for this disorder. Stimulation tests are usually not required in young infants but may be useful in evaluating older patients who have either a late onset or were not diagnosed until later in life.

CPT Codes

82157, 82533, 82626, 82634, 83498, 84403.

Contacts

Last Updated

9/5/2024