Oligosaccharide Screen, Random, Urine

Casandra

Casandra Test Code MC53959Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID OLIGUCPT Code 84377

Oligosaccharide Screen, Random, Urine

Clinical Use

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)

Special Instructions

Necessary patient information includes the patient’s age, and submission of the Biochemical Genetics Patient Information form (T602) is recommended. If not ordered electronically, include the Biochemical Genetics Test Request form (T798) with the specimen. The test is NY State available and participates in testing algorithms such as those for epilepsy (unexplained or familial) and congenital disorders of glycosylation. (Mayo Clinic Laboratories)

Limitations

As a screening test, not all oligosaccharidoses are detected; characteristic excretion profiles may indicate a disorder, but abnormal results require confirmatory enzyme or molecular testing. The assay may yield false‑negative results in older individuals with mild disease and false‑positive results for Pompe disease in pediatric patients receiving infant formula. (Mayo Clinic Laboratories)

Test Details

New York Approved