Globotriaosylsphingosine, Blood
Use
This test is useful for the screening of patients with Fabry disease when a serum specimen is not available. It is an X-linked recessive lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. Reduced enzyme activity results in the accumulation of glycosphingolipids, particularly in the kidney, heart, and brain. The test measures the glycosphingolipid, globotriaosylsphingosine (LGb3), which may be elevated in symptomatic patients and is helpful in monitoring disease progression and treatment response.
Special Instructions
Not provided.
Limitations
An elevation of globotriaosylsphingosine indicates Fabry disease, although a normal result does not rule it out. Some patients with late-onset Fabry disease may have normal concentrations of LGb3. Molecular genetic testing is recommended for female patients as alpha-galactosidase A activity may be normal in affected females.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Globotriaosylsphingosine
Analyte
LOINC Codes
- 92753-3 - Globotriaosylsphingosine Bld-sCnc
- 59462-2 - Clinical biochemist review
- 92753-3 - Globotriaosylsphingosine Bld-sCnc
- 18771-6 - Provider signing name
Result Turnaround Time
3-9 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)
Collection Instructions
Send whole blood in original vial. Do not aliquot.
Causes for Rejection
Gross hemolysis OK, Gross lipemia OK, Gross icterus OK
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 72 hours |