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CONGENITAL ADRENAL HYPERPLASIA (CAH) Profile 6 (Comprehensive Screen)

Test Codes

EPIC: LAB1231613, Beaker: XCAH6, MAYO (custom panel)

Department

Send Outs

Instructions

This profile includes: Androstenedione, Cortisol, Deoxycortisol 11, Deoxycorticosterone (DOC), DHEA, Progesterone, Testosterone, 17-OH-Pregnenolone, 17-A-OH-Progesterone.

Specimen Collection Criteria

Collect: Three 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: 3.5 mL serum, frozen (-20°C/-4°F or below). (Minimum: 2.0 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 one hour of collection. Transfer serum to a plastic transport tube and freeze (-20°C/-4°F or below) immediately.

Transport: 3.5 mL serum, frozen (-20°C/-4°F or below). (Minimum: 2.0 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): 72 hours
Frozen (-20°C/-4°F or below): 21 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 5-9 days.

Reference Range

By report.

Test Methodology

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).

Clinical Utility

The Clinical CAH Profile 6 (Comprehensive Screen) measures these adrenal glucocorticoid and androgen steroid pathways to identify the specific enzymatic deficiency(ies) of neonates born with ambiguous genitalia. The prime diagnosis until it is ruled out is congenital adrenal hyperplasia (21-hydroxylase deficiency), because CAH is the only condition which is potentially life threatening.

The external genitalia are rarely distinctive enough to allow diagnosis of a particular disorder or to distinguish clearly between male and female pseudohermaphroditism. The potential for a grave error in diagnosis and subsequent management emphasizes the need for adequate biochemical characterization of the defect in each patient with ambiguous genitalia.

CPT Codes

82157, 82533, 82626, 82633 x2, 82634, 83498, 84143, 84144, 84403.

Contacts

Last Updated

9/5/2024