Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Values are valid only on day of printing. |
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.
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.
The following are available in Special Instructions:
-Newborn Screen Follow-up for Gaucher Disease
-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)