Sterols, Plasma
Use
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome, and X-linked chondrodysplasia punctata 2. Cholesterol biosynthesis disorders can lead to congenital skeletal malformations, dysmorphic facial features, psychomotor retardation, and failure to thrive.
Special Instructions
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Limitations
Reference values were derived using fasting specimens from healthy individuals. Sitosterol and campesterol values may be mildly elevated in individuals consuming foods high in plant sterols. Desmosterol may be elevated in individuals on amiodarone medication. Mild elevations of 7-dehydrocholesterol and 8-dehydrocholesterol may be observed in patients taking antidepressants such as aripiprazole and trazodone. Patients with primary dyslipidemias may also exhibit altered cholesterol metabolism and mild elevations of sterols.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 75858-1
- 75739-3
- 75740-1
- 75738-5
- 75741-9
- 18771-6
- 59462-2
- 2082-6
- 33275-9
- 34671-8
- 100424-1
- 100425-8
- 100426-6
- 100427-4
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.1 mL
Container
Plastic vial
Collection Instructions
Centrifuge specimen and aliquot plasma into plastic vial. Send plasma frozen.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 28 days |
| Frozen | 92 days |