Congenital Adrenal Hyperplasia Panel, 21-Hydroxylase Deficiency
Also known as: CAH 21 HYDROX
Use
This test is used to screen for 21-hydroxylase deficiency, the most common form of congenital adrenal hyperplasia (CAH). CAH is an inherited disorder affecting adrenal gland function, leading to hormone imbalances. This panel aids in diagnosing classic and nonclassic 21-hydroxylase deficiency, which is essential for managing patients with congenital adrenal insufficiency. Early diagnosis and treatment are critical to prevent complications such as adrenal crisis and abnormal sexual development. The panel measures specific steroid levels to assess enzyme activity.
Special Instructions
Collect specimens between 6-10 a.m. to ensure reliable results. It is crucial to separate serum or plasma from cells as soon as possible, preferably within 2 hours of collection. Multiple tests require separate specimens. Use an ARUP Standard Transport Tube for specimen transport and freeze immediately to maintain stability.
Limitations
The test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration, although performed in a CLIA certified laboratory intended for clinical purposes. The accuracy of results may be affected by improper specimen handling, such as failure to separate serum or plasma within two hours or improper storage temperatures. Refrigerated or room temperature specimens are unacceptable and can lead to erroneous results.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 1668-3
- 1854-9
- 2193-1
- 6765-2
- 1668-3
- 6765-2
- 1854-9
- 2193-1
Result Turnaround Time
1-5 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1.8 mL
Minimum Volume
0.9 mL
Container
ARUP Standard Transport Tube
Collection Instructions
Separate serum or plasma from cells ASAP or within 2 hours of collection. Freeze immediately.
Patient Preparation
Collect between 6-10 a.m.
Storage Instructions
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Causes for Rejection
Refrigerated or room temperature specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | Unacceptable |
| Frozen | 6 months |
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