Use

This urine screening assay is intended to screen for selected oligosaccharidoses—lysosomal storage disorders—in cases where clinical features are nonspecific. It is useful as an initial workup tool, especially in unexplained refractory epilepsy or overlapping clinical features among oligosaccharidoses. Definitive diagnosis requires follow-up via enzyme assay or molecular genetic testing. Diseases detectable include alpha‑mannosidosis, beta‑mannosidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, GM1 and GM2 gangliosidoses, sialidosis, galactosialidosis, mucolipidosis II/III, mucopolysaccharidosis IVB, Pompe disease, and potentially other mucopolysaccharidoses, Gaucher disease, and certain congenital disorders of glycosylation such as PMM2, NGLY1, MOGS, and ALG1. (Mayo Clinic Laboratories)