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Test Code PSYCF 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

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Psychosine, CSF

Specimen Type

CSF

Specimen Minimum Volume

0.1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
CSF Frozen 7 days

Reference Values

Normal < 0.04 nmol/L

Interpretation

An elevation of psychosine is indicative of Krabbe disease or saposin A cofactor deficiency.

Clinical Reference

1. Kwon JM, Matern D, Kurtzberg J, et al. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018;13(1):30. doi: 10.1186/s13023-018-0766-x

2. Orsini JJ, Escolar ML, Wasserstein MP, et al. Krabbe disease. In: Adam MP, Mirzaa GM, Pagon RA, eds. GeneReviews[Internet]. University of Washington, Seattle; 2000. Updated October 11, 2018. Accessed August 31, 2023. Available at: www.ncbi.nlm.nih.gov/books/NBK1238/

3. Turgeon CT, Orsini JJ, Sanders KA, et al. Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis. 2015;38(5):923-929

4. Wenger DA, Escolar ML, Luzi P, Rafi MA: Krabbe disease (globoid cell leukodystrophy). In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed August 31, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225546481&bookid=2709

5. Guenzel AJ, Turgeon CT, Nickander KK, et al. The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genet Med. 2020;22(6):1108-1118

6. Thompson-Stone R, Ream MA, Gelb M, et al. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe disease. Mol Genet Metab. 2021;134(1-2):53-59

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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
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