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HelpTest Code LAB1232639 Psychosine, Spinal Fluid
Ordering Guidance
This test is recommended as a diagnostic or monitoring test when spinal fluid is collected primarily to determine protein content in a patient at risk of or monitored for the development of signs of Krabbe disease.
An additional and less invasive diagnostic or monitoring test is measurement of psychosine in red blood cells; see PSYR / Psychosine, Whole Blood.
Shipping Instructions
Send on dry ice. Avoid freeze thaw cycles.
Necessary Information
1. Patient's age is required.
2. Date of hematopoietic stem cell transplantation (HSCT), if performed.
Specimen Required
Container/Tube: Sterile vial.
Specimen Volume: 0.15 mL
Collection Instructions: Do not aliquot.
Useful For
Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens
Follow-up of individuals affected with Krabbe disease
Follow-up testing after an abnormal newborn screening result for Krabbe disease
Monitoring individuals at risk to develop late onset Krabbe disease
Monitoring individuals with Krabbe disease after hematopoietic stem cell transplantation
Genetics Test Information
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal disorder caused by deficient activity of the enzyme galactocerebrosidase.
Krabbe disease is clinically variable and infantile-onset Krabbe disease is the most severe variant with rapid neurological regression resulting in early death.
Reporting Name
Psychosine, CSFSpecimen Type
CSFSpecimen Minimum Volume
0.1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| CSF | Frozen | 7 days |
Reject Due To
| Gross hemolysis | Reject |
Reference Values
Normal < 0.04 nmol/L
Day(s) Performed
Tuesday, Thursday
Report Available
3 to 7 daysSpecimen Retention Time
IndefinitelyPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PSYCF | Psychosine, CSF | 93686-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606150 | Interpretation (PSYCF) | 59462-2 |
| 606146 | Psychosine, CSF | 93686-4 |
| 605158 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.