Oligosaccharidoses Screen, Fibroblasts
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.
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
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
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Oligosaccharidoses Screen, Fibro