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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.


Useful 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

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.

Interpretation

When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro confirmatory studies (enzyme assay and molecular test).

 

Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. Specific enzymatic or molecular assays is recommended to confirm positive results.

Clinical Reference

1. Lysosomal Disorders. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed November 30, 2023. Available at https://ommbid.mhmedical.com/book.aspx?bookID=2709#225069419

2. Enns GM, Steiner RD, Cowan TM. Lysosomal disorders. In: Sarafoglou K, Hoffmann GF, Roth KS. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw Hill; 2009

3. Kingma SDA, Bodamer OA, Wijburg FA. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015;29(2):145-157. doi:10.1016/j.beem.2014.08.004

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