CAH Panel 1 (21‑Hydroxylase vs 11Beta‑Hydroxylase Deficiency)
Use
Deficiency of 21‑Hydroxylase is the most frequent cause of congenital adrenal hyperplasia (accounting for ~95% of cases) and 11Beta‑Hydroxylase is the second most frequent (~5% of cases). Deficiencies of these two enzymes result in the accumulation of distinct steroid precursors.
Special Instructions
An early morning specimen is preferred. Specify time of day specimen was collected, patient age and sex on test requisition.
Limitations
Not provided.
Methodology
Mass Spectrometry
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
3 mL
Minimum Volume
0.6 mL
Container
red‑top tube (no gel)
Collection Instructions
An early morning specimen is preferred. Specify time of day specimen was collected, patient age and sex on test requisition.
Causes for Rejection
Gross hemolysis • Grossly lipemic • Serum separator tube (SST)
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 7 days |
| Frozen | 28 days |
Other tests from different labs that may be relevant