Pregnenolone and 17-Hydroxypregnenolone, Serum
Use
The test is used as an ancillary test for congenital adrenal hyperplasia (CAH), particularly when 21- and 11-hydroxylase deficiencies are ruled out. It helps confirm a diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency and 17-alpha-hydroxylase deficiency. Additionally, it can evaluate women with hirsutism or infertility due to adult-onset CAH.
Special Instructions
The test includes profiles for Pregnenolone and 17-Hydroxypregnenolone, both available separately. Testing is performed using serum samples collected in specific containers. It is approved for order in New York State.
Limitations
The test may show high 17-hydroxypregnenolone levels in preterm infants due to non-specific causes. Elevated steroid levels in infants at birth can lead to diagnostic confusion. Proper specimen collection and handling are crucial for accurate results.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- In Process
- 6765-2
- 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
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
Gross hemolysis: OK, Gross lipemia: OK, Gross icterus: OK
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 28 days |