TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: PSYWB    
Psychosine, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

Aiding in the biochemical diagnosis of Krabbe disease

 

This test is not capable of identifying carriers of Krabbe disease.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disorder caused by an enzyme deficiency of galactocerebrosidase (GALC).

 

Although Krabbe disease is clinically variable, the most common and severe form of the disorder is early infantile onset that presents with rapid neurological regression and results in early death.

 

This test is a second-tier assay for infants who have abnormal newborn screens with reduced GALC activity and can diagnose and monitor patients with Krabbe disease and saposin A cofactor deficiency.

Highlights

Elevations in psychosine support a diagnosis of Krabbe disease; therefore, psychosine quantitation is a useful biomarker in determining if an individual has active disease, and can aid in monitoring disease progression or treatment response.

 

Psychosine is also elevated in saposin A cofactor deficiency, which results in a similar clinical phenotype to Krabbe disease, but patients have normal galactocerebrosidase (GALC) activity.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Psychosine, B

Aliases Lists additional common names for a test, as an aid in searching

Galactopsychosine
Galactosylphingosine
Krabbe disease
Psychosine