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Test ID 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.


Useful For

Screening patients suspected of having a lysosomal storage disorder

Genetics Test Information

This is a general urine screening test for a broad array of lysosomal storage (LSD) and related disorders. Not all LSD are detectable by this method.

Highlights

The first step in a diagnostic workup of an individual suspected of having a lysosomal storage disorder (LSD) includes urine analyses for metabolites associated with mucopolysaccharidoses, oligosaccharidases, disorders of sulfatide degradation, and LSDs with characteristic urine profiles.

 

This test contains a combined analysis of ceramide trihexosides, mucopolysaccharides, oligosaccharides, and sulfatides. This combined analysis of these disease-specific markers allows for the identification of disorders that may not be picked up using any of the single tests alone.

Disease States

  • Sialidosis
  • Galactosialidosis

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

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, U

Specimen Type

Urine

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

11 to 17 days

Performing 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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LSDS Lysosomal Storage Disorders Scrn, U 105125-9

 

Result ID Test Result Name Result LOINC Value
606773 Lysosomal Storage Disorders Interp 94423-1
606772 Reviewed By 18771-6

NY State Approved

Yes