Test Catalog

Test ID: GPSYP    
Glucopsychosine, Plasma

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

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified

 

Diagnosis and monitoring of patients with Gaucher disease

 

Documentation of an elevated glucopsychosine (glucosylsphingosine: lyso-GL1) level supports the biochemical diagnosis of Gaucher disease

 

Monitoring a patient's response to treatment

 

This test is not useful for identifying carriers of GBA mutations.

Highlights

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucosidase activity.

 

There are 3 described types of Gaucher disease with varying clinical presentations and age of onset from a perinatal lethal disorder to an asymptomatic type.

 

Glucopsychosine (glucosylsphingosine: lyso-GL1) is elevated in symptomatic patients and supports a diagnosis of Gaucher disease.

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

Glucopsychosine, P

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

Glucopsychosine
Glucosylsphingosine
Gaucher disease
Lyso-GL1