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Order 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

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.

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

Reject Due To

Gross hemolysis Reject

Reference Values

Normal < 0.04 nmol/L

Method Description

Psychosine is extracted from cerebrospinal fluid and quantified using an isotopically labeled internal standard by liquid chromatography tandem mass spectrometry.(Unpublished Mayo method)

Day(s) Performed

Tuesday, Thursday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542