Glucopsychosine, Blood
Use
This test is a second-tier diagnostic and monitoring tool for Gaucher disease, utilized when a newborn screening indicates reduced beta-glucosidase (GBA) activity. It monitors patients using whole blood specimens and supports the biochemical diagnosis of Gaucher disease. The test is useful in monitoring a patient's response to treatment. However, it is not intended for identifying carriers of GBA1 variants.
Special Instructions
Not provided.
Limitations
This test may not detect carriers of GBA1 variants. Some patients with Gaucher disease might have normal glucopsychosine concentrations, which could lead to diagnostic miss. The test relies on the measurement of glucopsychosine (lyso-GL1), which, when elevated, is indicative but not exclusively diagnostic of Gaucher disease due to possible normal glucopsychosine levels in certain patients. Moreover, improper specimen collection or handling and interfering substances may lead to diagnostic confusion.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Glucopsychosine (glucosylsphingosine, lyso-GL1)
Analyte
LOINC Codes
- 92751-7 - Glucopsychosine Bld-sCnc
- 59462-2 - Clinical biochemist review
- 92751-7 - Glucopsychosine Bld-sCnc
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1 mL
Minimum Volume
0.25 mL
Container
Lavender top (EDTA), Green top (sodium heparin, lithium heparin), or Yellow top (ACD B)
Collection Instructions
Send whole blood in original vial. Do not aliquot.
Causes for Rejection
Gross hemolysis, lipemia, and icterus are acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 72 hours |