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CONGENITAL ADRENAL HYPERPLASIA (CAH) Profile 7 (Treatment Profile)

Congenital Adrenal Hyperplasia Profile 7

Test Codes

EPIC: LAB1231608, Beaker: XCAH7, MAYO (custom panel)

Department

Send Outs

Instructions

This profile includes: Androstenedione, 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 one hour of collection. Transfer serum to a plastic transport tube and freeze (-20°C/-4°F or below).

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

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 in 4-6 days.

Reference Range

By report.

Test Methodology

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

Interpretation

This profile can be used to monitor patients being treated for Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

Clinical Utility

This profile is appropriate for monitoring patients who are being treated for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. It is often recommended that the cortisol dose be adjusted so that the plasma androstenedione level does not exceed 50 ng/dL and 17-OH progesterone should not be fully suppressed. Testosterone may be useful in girls and prepubertal boys. Hormones should be measured at a consistent time in relation to cortisol administration. In addition to biochemical monitoring it is also important to follow clinical parameters including height in a growing child.

Reference

1. Speiser PW. Congenital Adrenal Hyperplasia owing to 21-hydroxylase deficiency. Endo and Metab Clinics of N. Amer. 30: 31-59: 2001.
2. Migeon, CJ, Wisniewski AB. Congenital Adrenal Hyperplasia owing to 21-hydroxylase deficiency: Growth, Development and Therapeutic Considerations Endo and Metab Clinics of N. Amer. 30:193-206;2001.

CPT Codes

82157, 83498, 84403.

Contacts

Last Updated

9/5/2024