Congenital Adrenal Hyperplasia (CAH) Pediatric Profile One−21-Hydroxylase Deficiency Screen (Endocrine Sciences)
Use
The Congenital Adrenal Hyperplasia (CAH) Pediatric Profile One−21-Hydroxylase Deficiency Screen is used to evaluate pediatric patients for the presence of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. This disorder impacts the adrenal glands' capability to produce cortisol and aldosterone, leading to excess androgen production. Early diagnosis and management can prevent severe complications such as electrolyte imbalance, dehydration, and potentially life-threatening adrenal crisis.
Special Instructions
Serum must be separated from cells within 45 minutes of venipuncture. To avoid delays in turnaround time, submit separate frozen specimens if multiple tests are requested. Store blood samples in red-top tubes; do not use gel-barrier tubes.
Limitations
This test may not detect all forms of adrenal hyperplasia, as it primarily focuses on 21-hydroxylase deficiency. Results should be considered in conjunction with clinical evaluation and not be used as the sole basis for treatment decisions. Variables such as recent illness or physiological stress may affect hormone levels and potentially alter test outcomes. Interpretation of results requires consideration of patient age, gender, and clinical status.
Methodology
Other
Biomarkers
LOINC Codes
- 79221-8
- 1854-9
- 2143-6
- 2193-1
- 1668-3
- 2986-8
Result Turnaround Time
5-9 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
2 mL
Minimum Volume
1 mL
Container
Red-top tube only
Collection Instructions
Serum must be separated from cells within 45 minutes of venipuncture. Send serum in a plastic transport tube.
Storage Instructions
Freeze. Stable at room temperature for four hours or refrigerated for one day. Stable for 90 days frozen.
Causes for Rejection
Use of gel-barrier tube.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 hours |
| Refrigerated | 1 day |
| Frozen | 90 days |
