Pregnenolone, Serum
Use
This test is useful as an ancillary test for congenital adrenal hyperplasia (CAH), specifically in cases where 21- and 11-hydroxylase deficiencies have been excluded. It helps confirm a diagnosis of 3-beta-hydroxy dehydrogenase deficiency. In CAH, inherited defects in steroid biosynthesis can lead to life-threatening crises in newborns and incorrect gender assignment of virilized females. This test aids in identifying such enzyme deficiencies, crucial for timely diagnosis and management.
Special Instructions
This test must be performed using a serum specimen, preferably collected in a red-top tube. Serum gel tubes are acceptable. The specimen must be centrifuged and aliquoted into a plastic vial within 2 hours of collection and frozen immediately. This test is available for order by clients in New York State.
Limitations
The test should not be used as a standalone diagnostic without confirming tests for other steroid intermediates. Misinterpretation can occur in the presence of improper specimen handling, or if inappropriate test selection compromises the diagnostic accuracy. It does not replace the need for clinical correlation or additional testing for broader CAH profiles, which may be affected by other enzyme deficiencies not detected by this assay.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 2837-3
- 2837-3
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1 mL
Minimum Volume
0.5 mL
Container
Plastic vial
Collection Instructions
Within 2 hours of collection, centrifuge the specimen and immediately aliquot serum into a plastic vial. Freeze immediately.
Storage Instructions
Specimen should be frozen and is stable for up to 28 days when maintained at this temperature.
Causes for Rejection
The presence of gross hemolysis, lipemia, or icterus is acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 28 days |