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HelpTest ID NBLD0612 Lysosomal Storage Disorders Screen, Random, Urine
Ordering Guidance
This test is the recommended screening test for the initial workup of a suspected lysosomal storage disorder (LSD) when the patient's clinical features are not suggestive of any specific LSD.
Necessary Information
1. Patient's age is required.
2. 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:
1. Do not administer low-molecular weight heparin before specimen collection.
2. Baby wipes or wipes containing soaps or lotions should not be used before specimen collection because these may interfere with results.
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 10 mL
Pediatric Volume: 3 mL
Collection Instructions: Collect a first-morning, random urine specimen.
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
606771Useful For
Screening patients suspected of having a lysosomal storage disorder
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CTS02 | Ceramide Trihex and Sulfatide, U | Yes, (Order CTSU) | Yes |
| MPS02 | Mucopolysaccharides Quant, U | Yes, (Order MPSQU) | Yes |
| OLI02 | Oligosaccharide Screen, U | Yes, (Order OLIGU) | Yes |
| BG721 | Lysosomal Storage Disorders Interp | No | Yes |
Testing Algorithm
For information see:
-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
Special Instructions
Method Name
CTS02, OLI02: Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
MPS02: Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
BG721: Medical Interpretation
Reporting Name
Lysosomal Storage Disorders Scrn, USpecimen Type
UrineSpecimen Minimum Volume
3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Refrigerated (preferred) | 15 days | |
| Frozen | 365 days | ||
| Ambient | 7 days |
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
Varies
Report Available
11 to 17 daysPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
83789
83864
84377
82570