Test ID CTSU Ceramide Trihexosides and Sulfatides, Random, Urine
Necessary Information
Biochemical Genetics Patient Information (T602, in Special Instructions) is recommended. This information aids in providing a more thorough interpretation of results. Send information with specimen.
Specimen Required
Patient Preparation: Baby wipes or wipes containing soaps and lotions should not be used prior to urine collection because these may interfere with results.
Supplies: Aliquot Tube, 5 mL (T465)
Collection Container/Tube: Plastic, 5-mL urine tube
Specimen Volume: 2 mL
Collection Instructions: Collect a first-morning, random urine specimen.
Specimen Stability Information: Refrigerated (preferred) 45 days/Ambient 45 days/Frozen 19 months
Forms
Biochemical Genetics Patient Information (T602) in Special Instructions
Useful For
Identifying patients with Fabry disease
Identifying patients with metachromatic leukodystrophy
Identifying patients with saposin B deficiency
Identifying patients with multiple sulfatase deficiency
Identifying patients with mucolipidosis II (I-cell disease)
Genetics Test Information
This test measures urinary excretion of ceramide trihexosides and sulfatides.
Many patients with Fabry disease excrete ceramide trihexosides in their urine.
Patients with either metachromatic leukodystrophy or multiple sulfatase deficiency excrete sulfatides in their urine.
Patients with saposin B deficiency and some patients with mucolipidosis II (I-cell disease) excrete both ceramide trihexosides and sulfatides in their urine.
Specific enzyme or molecular analysis should be performed to confirm a positive result of this test.
Testing Algorithm
The following are available in Special Instructions:
-Fabry Disease Diagnostic Testing Algorithm
-Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A
Special Instructions
Method Name
Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
Reporting Name
Ceramide Trihex and Sulfatide, USpecimen Type
UrineSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Refrigerated (preferred) | 45 days | |
Ambient | 45 days | ||
Frozen |
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Varies
Performing Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
83789
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
CTSU | Ceramide Trihex and Sulfatide, U | 59462-2 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
606148 | Interpretation | 59462-2 |
606149 | Reviewed By | 18771-6 |