Test ID CTSU Ceramide Trihexosides and Sulfatides, Random, Urine
Necessary Information
Biochemical Genetics Patient Information (T602) 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: Sarstedt Aliquot Tube, 5 mL (T914)
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
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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)
Testing Algorithm
For information see:
-Fabry Disease Diagnostic Testing Algorithm
If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)
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) Performed
Monday
Report Available
8 to 15 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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 |