|Values are valid only on day of printing.|
Screening for possible oligosaccharidoses
The oligosaccharide screening test analyses the activity of 6 enzymes in fibroblasts.
Deficiency or absence of these enzymes is associated with 9 different oligosaccharidosis, including alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, Schindler disease, GM1 gangliosidosis, Morquio B, sialidosis, galactosialidosis, and mucolipidoses.
Patients with mild sialidosis or older patients with mild clinical phenotypes may not be detected by this test.
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast cultures, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.
OLITC: Enzyme Reaction Assay Followed by Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage