Psychosine, Spinal Fluid
Use
The test is used for aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens. It is also used for the follow-up of individuals affected with Krabbe disease, follow-up testing after an abnormal newborn screening result for Krabbe disease, and monitoring individuals at risk for late-onset Krabbe disease. Additionally, it helps monitor individuals with Krabbe disease after hematopoietic stem cell transplantation.
Special Instructions
Not provided.
Limitations
Asymptomatic patients with later onset Krabbe disease may show normal psychosine concentrations in cerebrospinal fluid. Patients with saposin A cofactor deficiency also exhibit elevated psychosine levels, which clinically mimic Krabbe disease but have normal GALC activity.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Psychosine
Analyte
LOINC Codes
- 93686-4 - Psychosine CSF-sCnc
- 93686-4 - Psychosine CSF-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
Cerebrospinal Fluid
Volume
0.15 mL
Minimum Volume
0.1 mL
Container
Sterile vial
Collection Instructions
Do not aliquot.
Storage Instructions
Send on dry ice. Avoid freeze thaw cycles.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 7 days |