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HelpTest Code PSYR Psychosine, Whole Blood
Reporting Name
Psychosine, RBCPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens
Follow-up of individuals affected with Krabbe disease
Follow-up testing after an abnormal newborn screening result for Krabbe disease
Monitoring of individuals at risk to develop late onset Krabbe disease
Monitoring of individuals with Krabbe disease after hematopoietic stem cell transplantation
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Ordering Guidance
This test is recommended for individuals of all ages, infancy through adulthood, for diagnosis or long-term monitoring of patients who have been treated or who are at risk of developing Krabbe disease.
If a result is needed within 24 hours, order PSY / Psychosine, Blood Spot.
Shipping Instructions
Must be sent refrigerated.
Necessary Information
1. Patient’s age is required.
2. Date of hematopoietic stem cell transplantation (HSCT), if performed.
Specimen Required
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin, lithium heparin)
Specimen Volume: 2 mL
Specimen Type
Whole bloodSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated | 7 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
Normal <5 pmol/g Hb
Interpretation
An elevation of psychosine is indicative of Krabbe disease or saposin A cofactor deficiency.
Day(s) Performed
Tuesday, Thursday
Report Available
3 to 7 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PSYR | Psychosine, RBC | 93687-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606152 | Interpretation (PSYR) | 59462-2 |
| 606145 | Psychosine, RBC | 93687-2 |
| 606151 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Testing Algorithm
If the patient has abnormal newborn screening result for Krabbe disease, immediate action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1,2)