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Test ID 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

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.

Highlights

This test is used as a biomarker of Krabbe disease for individuals with reduced galactocerebrosidase (GALC) activity. 

 

For cerebrospinal fluid (CSF) testing, psychosine is typically ordered when CSF is collected primarily to determine protein content in a patient at risk of or monitored for the development of signs of Krabbe disease.

 

Elevations in psychosine support a diagnosis of Krabbe disease; therefore, psychosine quantitation is a useful biomarker in determining if an individual has active disease. In addition, psychosine may be a valuable biomarker to monitor disease progression or treatment response.

 

Psychosine may also be elevated in saposin A cofactor deficiency, which results in a similar clinical phenotype to Krabbe disease, but patients typically have normal GALC activity in vitro.

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
CSF Frozen 7 days

Reference Values

Normal < 0.04 nmol/L

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

NY State Approved

Yes