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
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.
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.
Screening patients suspected of having a lysosomal storage disorder
Patient's age is required.
Patient Preparation: Do not administer low-molecular weight heparin prior to collection. Baby wipes or wipes containing soaps and lotions should not be used prior to collection because these may interfere with results.
Collect a first-morning, random urine specimen.
Biochemical Genetics Patient Information is recommended. This information aids in providing a more thorough interpretation of results. Send information with specimen.
In rare instances, a normal excretion of ceramide trihexosides may be seen in individuals who are carriers of, or affected with, Fabry disease. If Fabry disease is clinically suspected, see Fabry Disease Testing Algorithm in Special Instructions for additional testing recommendations.
Not all lysosomal storage disorders are detectable through urine screening.
CTS02, OLIO2: Matrix-Assisted Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
MPS02: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
BG721: Medical 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.