Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: GPSYW
Glucopsychosine, Blood
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 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.
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The following are available in Special Instructions:
-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.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
Glucopsychosine
Glucosylsphingosine
Lyso-GL1