Globotriaosylsphingosine, Blood Spot
Use
This test is useful for screening patients with Fabry disease using dried blood spots when a serum specimen is not available. It measures levels of globotriaosylsphingosine (LGb3), which may be elevated in symptomatic patients of Fabry disease. This test aids in diagnosing the disease and can also be helpful for monitoring disease progression and treatment response.
Special Instructions
Not provided.
Limitations
The test is not suitable for newborn screening follow-up. Some patients with late-onset Fabry disease may have normal concentrations of globotriaosylsphingosine, which could lead to false negatives.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
globotriaosylsphingosine
Analyte
LOINC Codes
- 92754-1 - Globotriaosylsphingosine DBS-sCnc
- 59462-2 - Clinical biochemist review
- 92754-1 - Globotriaosylsphingosine DBS-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
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card (Filter Paper)
Collection Instructions
An alternative blood collection option for a patient older than 1 year is a fingerstick. Let blood dry completely on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours. At least 1 spot should be complete (i.e., unpunched). Do not expose specimen to heat or direct sunlight. Do not stack wet specimens. Keep specimen dry.
Storage Instructions
Refrigerated or ambient for 10 days; Frozen for 59 days.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers; Insufficient specimen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |
| Frozen | 59 days |