Test ID: GPSYW    
Glucopsychosine, Blood

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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 variants.

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

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 generally distinguished based on whether there is central nervous system involvement.

 

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

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

The following are available

-Newborn Screen Follow-up for Gaucher Disease

-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase

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

Glucopsychosine, B

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

Gaucher disease
Glucopsychosine
Glucosylsphingosine
Lyso-GL1