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17-Hydroxypregnenolone, LC/MS/MS [8352X]
Test Code34972
CPT Codes
84143
Preferred Specimen
2 mL serum collected in a red-top tube (no gel)
Minimum Volume
0.4 mL
Transport Container
Plastic screw-cap vial
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Room temperature: 24 hours
Refrigerated: 5 days
Frozen: 28 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Serum separator tube (SST®)
Methodology
Liquid Chromatography Tandem Mass Spectrometry (LC/MS/MS)
Setup Schedule
Set up: Sun-Fri nights; Report available: 3-6 days
Limitations
Infants with 21-hydroxylase deficiency may present with non-elevated results.
Reference Range
See Laboratory Report
Clinical Significance
17-Hydroxypregnenolone is useful in the diagnosis of 3-Beta-Hydroxylase enzyme deficiency, a rare cause of congenital adrenal hyperplasia, and 17-Hydroxylase (P450c17) enzyme deficiency.