Glucopsychosine, Blood Spot

Use

This test is primarily useful for diagnosing and monitoring patients with Gaucher disease using dried blood spot specimens. It also serves as a second-tier test when newborn screening results indicate reduced beta-glucosidase (GBA) activity. Monitoring a patient's response to treatment is another significant clinical use. It is important to note that this test is not useful for identifying carriers of GBA1 variants, as Gaucher disease is characterized by deficient beta-glucosidase activity resulting in the accumulation of glucopsychosine (glucosylsphingosine: lyso-GL1) in symptomatic patients, thus supporting a diagnosis of Gaucher disease.