Glucopsychosine, Plasma
Use
The test is useful as a second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified. It aids in diagnosing and monitoring patients with Gaucher disease using plasma specimens. It supports the biochemical diagnosis of Gaucher disease and monitors a patient's response to treatment. Gaucher disease is caused by deficient beta-glucosidase activity, presenting in different types depending on neurological involvement. The test measures glucopsychosine (glucosylsphingosine: lyso-GL1), which is elevated in symptomatic patients with Gaucher disease.
Special Instructions
This test is available as part of a panel; see HSMP / Hepatosplenomegaly Panel, Plasma. If ordered with CTXP or OXNP, the individual tests will be canceled and HSMP ordered instead. Submission involves centrifuging specimens at 4 degrees C, aliquoting plasma into plastic vials without disturbing buffy coat layers, and sending frozen specimens.
Limitations
The test is not useful for identifying carriers of GBA1 variants. Some patients with Gaucher disease may have normal concentrations of glucopsychosine. The enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) may not be effective for type II Gaucher disease due to the blood-brain barrier.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 92750-9
- 59462-2
- 92750-9
- 18771-6
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.3 mL
Minimum Volume
0.25 mL
Container
Plastic vial
Collection Instructions
Centrifuge at 4 degrees C, aliquot plasma into plastic vial, do not disturb buffy coat, send frozen
Causes for Rejection
Gross hemolysis, lipemia, and icterus are not suitable conditions.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 65 days |