Test Catalog

Test ID: LYSDU    
Lysosomal Storage Disorders Screen, 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

Lysosomal storage disorders (LSD) are a group of genetic diseases characterized by the accumulation of substrates in the cells and tissues of affected individuals.

 

There is significant phenotypic overlap between LSDs making diagnosis a challenge.

 

In many cases, accumulating analytes spill out into bodily fluids and can be detected in urine; therefore, the first step in a diagnostic workup includes urine analyses for metabolites associated with specific LSDs.

 

The recognition of disease specific metabolites in the screening profile can help to secure a diagnosis.

 

Targeted follow-up testing can and should be performed using enzymatic or molecular assays.

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

A combined analysis and interpretation is reported to the client.

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

CTSNR, MQLNR: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

MQNNR: Spectrophotometry (SP)

OLINR: Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

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