LYSDU - Overview: Lysosomal Storage Disorders Screen, Urine

Test Catalog

Test Name

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 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 situation(s) 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 and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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 Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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