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
This test is primarily recommended when spinal fluid is collected to determine protein content for patients at risk or monitored for Krabbe disease. An alternative, less invasive test involves measuring psychosine in red blood cells. It's necessary to send the specimen on dry ice and avoid freeze-thaw cycles. Patient's age and date of hematopoietic stem cell transplantation, if applicable, are required.
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
LOINC Codes
- 93686-4
- 93686-4
- 59462-2
- 18771-6
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 |