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CAH Panel 1 (21-Hydroxylase vs 11Beta-Hydroxylase Deficiency)
Test Code15269
CPT Codes
82157, 82533, 82634, 83498, 84403
Includes
11-Deoxycortisol
Cortisol, Total, LC/MS
17-Hydroxyprogesterone
Androstenedione
Testosterone, Total, MS
Cortisol, Total, LC/MS
17-Hydroxyprogesterone
Androstenedione
Testosterone, Total, MS
Preferred Specimen
3 mL serum collected in a red-top tube (no gel)
Minimum Volume
0.6 mL
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
Refrigerated: 7 days
Frozen: 28 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis • Grossly lipemic • Serum separator tube (SST)
Methodology
Chromatography/Mass Spectrometry
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Reference Range
See individual tests
Clinical Significance
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.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |
Last Updated: November 6, 2024