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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


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.

Method Name

Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

Reporting Name

Ceramide Trihex and Sulfatide, U

Specimen Type


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Refrigerated (preferred) 45 days
  Ambient  45 days

Reference Values

An interpretive report will be provided.

Day(s) Performed


Report Available

8 to 15 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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


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

NY State Approved