Glucopsychosine, Blood Spot
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Quantification of glucopsychosine (glucosylsphingosine) in dried blood spots supports the biochemical diagnosis of Gaucher disease
May aid in monitoring a patientâ€™s response to treatment
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
This test is used as a second-tier newborn screen and to diagnose and monitor patients with Gaucher disease.
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of 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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name