Oxysterols, Plasma
Use
This test is useful for investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens. It is also used for monitoring individuals with Niemann-Pick type C disease. The test is not useful for identifying carriers of the disease.
Special Instructions
Not provided.
Limitations
This test should not be used for identification of carriers of Niemann-Pick disease. Elevations of biomarkers may also occur due to nonspecific neonatal cholestasis, which can lead to diagnostic confusion. It is crucial to adhere to collection and handling instructions to avoid improper specimen collection.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
7-Ketocholesterol
AnalyteCholestane-3beta,5alpha,6beta-triol
AnalyteLyso-sphingomyelin
Analyte
LOINC Codes
- 92740-0 - Oxysterols Pnl SerPl
- 92755-8 - Chol-3b,5a,6b-triol SerPl-sCnc
- 92764-0 - 7-Ketochol SerPl-sCnc
- 92747-5 - LSM SerPl-sCnc
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.3 mL
Minimum Volume
0.25 mL
Container
Plastic vial
Collection Instructions
Centrifuge at 4 degrees C. Aliquot plasma into a plastic vial. Do not disturb the buffy coat layer. Send frozen.
Causes for Rejection
Specimen types with gross hemolysis, gross lipemia, or gross icterus are acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 65 days |