Test Code LSDS 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.
CMH Collection: 3mL urine in a sterile cup
Specimen Minimum Volume
3 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Refrigerated (preferred) | 15 days | |
Frozen | 365 days | ||
Ambient | 7 days |
Testing Algorithm
For information see:
-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
Useful For
Screening patients suspected of having a lysosomal storage disorder
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Day(s) Performed
Varies
Report Available
11 to 17 daysReporting Name
Lysosomal Storage Disorders Scrn, UReference Values
An interpretive report will be provided.
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
Performing Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
83789
83864
84377
82570
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 |