CAH Panel 3 (Aldosterone Synthase Deficiency)

Test Code

15273

CPT Codes
82088, 82528, 82634, 83498

Includes

17-Hydroxyprogesterone
11-Deoxycortisol
18-Hydroxycorticosterone
Aldosterone, LC/MS

Preferred Specimen

2 mL serum collected in a red-top tube (no gel)

Patient Preparation
An early morning specimen is preferred.

Minimum Volume

1.8 mL

Instructions

Specify time of day specimen was collected. Specify patient's age and sex on test request form.

Transport Container

Transport tube

Transport Temperature

Frozen

Specimen Stability

Room temperature: 4 hours
Refrigerated: 7 days
Frozen: 30 days

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received room temperature • Serum separator tube (SST) • Moderate to gross hemolysis

Methodology
See individual tests

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up and Report available: Varies with assay

Reference Range

See Laboratory Report

Clinical Significance

This panel may be used for differential diagnosis of congenital adrenal hyperplasia (CAH) and aldosterone synthase deficiency. In addition to the analytes included in this panel (17-hydroxyprogesterone, 11-deoxycortisol, 18-hydroxycorticosterone, aldosterone), other tests may be required to establish a diagnosis.

CAH is a group of autosomal recessive diseases characterized by deficiencies of enzymes in steroid hormone production. These deficiencies cause imbalances of steroid intermediates and hormones. Clinical manifestations of CAH vary and depend upon the type of defect [1,2]. When symptoms and signs suggest aldosterone deficiency, this panel may be used to assist in diagnosing different types of CAH as well as aldosterone synthase deficiency, an inherited disorder caused by disruption of the final steps of aldosterone biosynthesis [3].

17-hydroxyprogesterone levels are elevated in patients with 21-hydroxylase deficiency (the cause of 95% of CAH). 11-beta-hydroxylase and P450 oxidoreductase deficiency can also result in elevated 17-hydroxyprogesterone levels, whereas other types of CAH can result in decreased 17-hydroxyprogesterone levels [1,2].

11-deoxycortisol levels are elevated in patients with 11-beta-hydroxylase deficiency and decreased in patients with P450 cholesterol side-chain cleavage enzyme deficiency [2].

18-hydroxycorticosterone is markedly elevated in patients with corticosterone methyloxidase (CMO) deficiency type II and mildly decreased in patients with CMO deficiency type I [3].

Aldosterone levels are decreased in patients with most types of CAH and CMO deficiency type II and undetectable in patients with CMO deficiency type I [3].

Other tests and panels are available to help differentiate among different types of CAH and disorders with similar clinical manifestations.

The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.

References
1. Speiser PW, et al. J Clin Endocrinol Metab. 2018;103(11):4043-4088.
2. El-Maouche D, et al. Lancet. 2017;390(10108):2194-2210
3. White PC. Mol Cell Endocrinol. 2004;217(1-2):81-87.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.