CAH Panel 1 (21-Hydroxylase vs 11Beta-Hydroxylase Deficiency)
Test Code
15269
83498, 82634, 82533, 82157, 84403
Clinical Significance
CAH Panel 1 (21-Hydroxylase vs 11Beta-Hydroxylase Deficiency) - 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.
Test Resources
None found for this test
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Test Details
11-Deoxycortisol
Cortisol, Total, LC/MS
17-Hydroxyprogesterone
Androstenedione
Testosterone, Total, MS
Cortisol, Total, LC/MS
17-Hydroxyprogesterone
Androstenedione
Testosterone, Total, MS
Methodology
Chromatography/Mass Spectrometry
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Reference Range(s)
See individual tests
Preferred Specimen(s)
3 mL serum collected in a red-top tube (no gel)
Minimum Volume
0.6 mL
Collection Instructions
An early morning specimen is preferred. Specify time of day specimen was collected, patient age and sex on test requisition.
Transport Container
Transport tube
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
- Room temperature: 48 hours
- Refrigerated: 7 days
- Frozen: 28 days
Reject Criteria
Gross hemolysis • Grossly lipemic • Serum separator tube (SST)
Setup Schedule
3 mL serum collected in a red-top tube (no gel)
0.6 mL
An early morning specimen is preferred. Specify time of day specimen was collected, patient age and sex on test requisition.
Transport tube
Refrigerated (cold packs)
Room temperature: 48 hours
Refrigerated: 7 days
Frozen: 28 days
Refrigerated: 7 days
Frozen: 28 days
Gross hemolysis • Grossly lipemic • Serum separator tube (SST)