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Beaumont Laboratory

CAH Profile 2

11 ß-hydroxylase deficiency , Congenital adrenal hyperplasia, 11-OH deficiency, LabCorp #500176, Esoterix #500835, EPIC: LAB5984, SOFT: XCAH2

Instructions

  • This profile includes: Androstenedione, Cortisol, Deoxycortisol (Specific Compound S), DHEA, Testosterone, 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: Two plain Red-top tubes.

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 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). (Min: 1.2 mL)

Rejection Criteria

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

Storage

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.

Laboratory

Sent to LabCorp Esoterix Endocrinology, Calabassas Hills, CA.

Performed

Wendseday, Saturday.
Results available in 3-6 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. 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 Code

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

Test Codes

LabCorp #500176, Esoterix #500835, EPIC: LAB5984, SOFT: XCAH2

Last Updated

10/13/2016

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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.