Globotriaosylsphingosine, Serum
Use
The test is useful for the diagnosis and monitoring of Fabry disease. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. The test measures the levels of globotriaosylsphingosine (LGb3), which is elevated in symptomatic patients, supporting the diagnosis of Fabry disease. The test also aids in monitoring disease progression and treatment response.
Special Instructions
Not provided.
Limitations
Carrier detection using globotriaosylsphingosine (LGb3) is unreliable. Some patients with Fabry disease, or individuals with pseudodeficiency of alpha-galactosidase enzyme, may have normal concentrations of LGb3, which can lead to diagnostic confusion. Elevated levels of LGb3 should be interpreted in the context of the entire clinical picture, as elevated LGb3 is diagnostic for Fabry disease, but normal results do not rule it out in all cases.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Globotriaosylsphingosine (Lyso-GB3)
Analyte
LOINC Codes
- 90234-6 - Globotriaosylsphingosine SerPl-mCnc
- 42349-1
- 90234-6 - Globotriaosylsphingosine SerPl-mCnc
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
8-14 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1 mL
Minimum Volume
0.5 mL
Container
Plastic vial, Sarstedt Aliquot Tube, 5 mL (T914)
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
Gross lipemia
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 48 hours |
| Frozen | 90 days |