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Beaumont Laboratory

CAH Profile 4

LabCorp #501023, Esoterix #500850, EPIC: LAB5985, SOFT: XCAH4

Instructions

  • This profile includes: Androstenedione, Cortisol, DHEA, 17-OH Pregnenolone, 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: One plain Red-top tube.

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: 1.5 mL serum, frozen (-20°C/-4°F or below). (Min: 0.8 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

Monday, Tuesday, Thursday.
Results available in 4-7 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 caused by 3ß-hydroxysteroid dehygrogenase-isomerase (3ß-HSD) deficiency. 3ß-HSD deficiency leads to elevation of the ratio of 17-hydroxypregnelone to 17-hydroxyprogesterone and the DHEA to androstenedione ratio. In severe forms, female fetuses may have pseudohermaphroditism and males have incomplete masculinization.

Unlike most forms of congenital adrenal hyperplasia the interpretation of laboratory data in late onset or mild 3ß-HSD deficiency is not clear. There is disagreement regarding the incidence and diagnostic criteria for this disorder. In children with premature adrenarche, the ACTH responses of 17-OH-prednenolone and DHEA are elevated for age and are generally comparable with results seen in older pubertal children. It is not clear whether this phenomenon results from a mild 3ß-HSD deficiency or simply represents a premature expression of a normal physiological process. In adult women with hirsutism the 17-OH-pregnenolone and DHEA responses are often considerably higher than normal.

CPT Code

82157, 82533, 82626, 83498, 84143.

Test Codes

LabCorp #501023, Esoterix #500850, EPIC: LAB5985, SOFT: XCAH4

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.