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CAH Panel 1 (21-Hydroxylase vs 11Beta-Hydroxylase Deficiency)
Test Code15269
CPT Codes
83498, 82634, 82533, 82157, 84403<br>**This test is not available for New York patients less than 6 years of age**
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
Setup Schedule
Set up and Report available: See individual assays
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.
