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HelpTest Code 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
CMH COLLECTION: 2 mL in sterile cup
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Refrigerated (preferred) | 45 days | |
| Ambient | 45 days | ||
| Frozen | |||
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)
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)
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Day(s) Performed
Monday
Report Available
8 to 15 daysReporting Name
Ceramide Trihex and Sulfatide, UReference Values
An interpretive report will be provided.
Method Name
Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
83789