Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
Use
This test is the preferred screening for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. It is also used as part of a comprehensive panel to assess women with symptoms such as hirsutism or infertility, which may be caused by adult-onset CAH. The test measures hormone levels that are often imbalanced in CAH, including cortisol, androstenedione, and 17-hydroxyprogesterone, helping in the diagnosis and management of the condition.
Special Instructions
Not provided.
Limitations
This test should not be used as the sole diagnostic tool but rather as part of a comprehensive evaluation. Factors such as improper specimen collection or handling and variations in patient condition can affect results. Additionally, supplements or medications taken by the patient can also influence hormone levels.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 79221-8 - Steroid Fract Pnl SerPl
- 1854-9 - Androst SerPl-mCnc
- 1668-3 - 17OHP SerPl-mCnc
- 2143-6 - Cortis SerPl-mCnc
- 9813-7 - Cortis AM peak SerPl-mCnc
- 9812-9 - Cortis PM SerPl-mCnc
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.6 mL
Minimum Volume
0.25 mL
Container
Plastic vial
Collection Instructions
Collect specimen in the morning (8 a.m.) and afternoon (4 p.m.). Include time of collection. Centrifuge and aliquot serum into a plastic vial.
Storage Instructions
Refrigerated preferred, ambient and frozen are acceptable.
Causes for Rejection
Gross lipemia
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 14 days |
| Frozen | 28 days |