Urine

3 mL urine

21 days upon receipt at reference laboratory

Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.

Please print, complete and submit the GCG Biochemical Diagnostic Request Form to the lab, with the specimen.

Oligosaccharides are analyzed using liquid chromatography tandem mass spectrometry (LC-MS/MS).

This new methodology improves the sensitivity and specificity of the test leading to fewer false positives.

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