TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

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

Useful For Suggests clinical disorders or settings where the test may be helpful

Screening patients suspected of having a lysosomal storage disorder

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This is a general urine screening test for a broad array of lysosomal storage (LSD) and related disorders. Not all LSDs 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, oligosaccharidoses, 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.

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
CTS02Ceramide Trihex and Sulfatide, UYes, (Order CTSU)Yes
MPS02Mucopolysaccharides Quant, UYes, (Order MPSQU)Yes
OLI02Oligosaccharide Screen, UYes, (Order OLIGU)Yes
BG721Lysosomal Storage Disorders InterpNoYes

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Lysosomal Storage Disorders Scrn, U

Aliases Lists additional common names for a test, as an aid in searching

Alpha-Fucosidosis
Alpha-Galactosidase Deficiency
Alpha-Mannosidosis
Alpha-N-Acetylgalactosaminidase Deficiency
Arylsulfatase A Deficiency
Arylsulfatase B Deficiency
Aspartylglucosaminuria
Aspartylglycosaminuria
Beta-Galactosidase Deficiency
Beta-Glucuronidase Deficiency
Ceramide Hexosides
Ceramide Trihexosidase
Ceramide Trihexosidase Deficiency
Chondroitin-6-sulfate
Chondroitin-6 sulfate
Dermatan Sulfate
Diffuse Angiokeratoma
Fabry Disease
Fabry's Disease
GAGS (Glycosaminoglycans)
Galactose-6-Sulfatase Deficiency
Galactosialidosis
GB3
GL3
Globotriaosylceramide
Glycosaminoglycans (GAGS)
GM1 gangliosidosis
GM2 gangliosidosis
Heparan Sulfate
Hunter Syndrome
Hurler Syndrome
Hurler-Scheie Syndrome
I-Cell Disease
Iduronate Sulfatase Deficiency
Iduronidase Deficiency
Keratan Sulfate
LSD
Lysosomal Storage
Lysosomal Storage Disease
Maroteaux Lamy Syndrome
Maroteaux-Lamy Syndrome
Metachromatic Leukodystrophy
Morquio A
Morquio B
MPS I
MPS II
MPS III
MPS IVA
MPS IVB
MPS VI
MPS VII
Mucolipidosis II
Mucolipidosis III
Mucopolysaccharides
Mucopolysaccharidosis
Multiple Sulfatase Deficiency
Oligosaccharides
Oligosaccharidosis
Pompe Disease
Pseudo-Hurler Polydystrophy
Sandhoff Disease
Sanfilippo Syndrome
Scheie Syndrome
Schindler Disease
Sialidosis
Sly Syndrome
Sphingolipids
Sulfatides