Ceramide Trihexosides and Sulfatides, Random, Urine
Use
Urinary excretion of ceramide trihexosides (CT) may suggest Fabry disease, while sulfatide excretion—with or without CT—may indicate metachromatic leukodystrophy, multiple sulfatase deficiency, mucolipidosis II (I‑cell disease), or saposin B deficiency. This test serves as a biochemical screen in these lysosomal storage disorders, although confirmatory enzyme or molecular testing is necessary for definitive diagnosis. Results guide follow‑up with condition‑specific assays or molecular evaluation.
Special Instructions
Not provided.
Limitations
This is a screening test; a positive result requires confirmation via specific enzyme assays or molecular genetic testing. Some individuals with Fabry disease may excrete normal ceramide trihexoside levels. Normal excretion patterns do not exclude disease in clinically suspected cases. Pseudodeficiency of arylsulfatase A may yield misleading results—follow‑up with specific enzyme assays is recommended.
New York Approved
Methodology
Mass Spectrometry (MALDI-TOF MS)
Biomarkers
Ceramide Trihexosides
ProteinSulfatides
Protein
LOINC Codes
- 59462-2 - Clinical biochemist review
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
2 mL
Minimum Volume
0.5 mL
Container
Plastic, 5‑mL urine tube (Sarstedt Aliquot Tube, 5 mL)
Collection Instructions
Collect a first‑morning, random urine specimen. Patient should not use baby wipes or wipes containing soaps prior to collection.
Patient Preparation
Avoid baby wipes or wipes containing soaps prior to urine collection.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 45 days |
| Refrigerated | 45 days (preferred) |
| Frozen | 19 months |