Test Catalog

Test ID: LSDS    
Lysosomal Storage Disorders Screen, Random, Urine

Method Description Describes how the test is performed and provides a method-specific reference

Ceramide trihexosides and sulfatides are determined by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis. Urine specimens are centrifuged and all but 50 mcL of supernatant is discarded from the pellet. Methanol including internal standards is added, and then ceramide trihexosides and sulfatides are extracted in chloroform. After centrifugation, the bottom chloroform later is spotted onto a MALDI plate, matrix is added and allowed to air dry. The plate is then analyzed using a MALDI TOF/TOF 5800 Analyzer.(Unpublished Mayo method)


Dermatan sulfate (DS), heparin sulfate (HS), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are enzymatically digested from urine. The reaction mixture is centrifuged and analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). The ratio of the extracted peak area of DS, HS, KS and C6S to internal standard as determined by LC-MS/MS is used to calculate the concentration of DS, HS, KS and C6S in the sample.(Unpublished Mayo method)


Oligosaccharides in : urine samples are extracted using Oasis HLB and carbograph columns and lyophilized overnight. Oligosaccharides are permethylated, the tubes centrifuged, and the supernatant removed. The supernatant is quenched with water, neutralized with acetic acid, extracted, eluted, and again lyophilized overnight. Specimens are resuspended, mixed 1:1 with a matrix solution, spotted onto a MALDI plate and allowed to air dry. The plate is then analyzed using a MALDI TOF/TOF 5800 Analyzer.(Xia B, Asif G, Arthur L, et al: Oligosaccharide analysis in urine by MALDI-TOF mass spectrometry for the diagnosis of lysosomal storage diseases. Clin Chem 2013 Sep;59[9]:1357-1368)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) Performed Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.


Report Available The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

14 to 18 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location Indicates the location of the laboratory that performs the test