Test Catalog

Test ID: GPSY    
Glucopsychosine, Blood Spot

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

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

 

Diagnosis and monitoring of patients with Gaucher disease

 

Documentation of an elevated glucopsychosine (glucosylsphingosine) level supports the biochemical diagnosis of Gaucher disease

 

May aid in monitoring a patient's response to treatment

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

 

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 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.

See Newborn Screen Follow-up for Gaucher Disease in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase in Special Instructions.

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, BS

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

Glucopsychosine
Glucosylsphingosine
Gaucher disease