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HelpTest 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: Prior to urine collection, patient should not use baby wipes or wipes containing soaps as these may interfere with testing.
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.
Secondary ID
606147Useful 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
-Lysosomal Disorders Screen Interpretive Algorithm
-Newborn Screen Follow-up for Metachromatic Leukodystrophy
If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)
Special Instructions
Specimen Type
UrineSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Urine | Refrigerated (preferred) | 45 days |
| Ambient | 45 days | |
| Frozen | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Tuesday
Report Available
2 to 8 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
83789