Aids in the diagnosis of sialidosis and galactosialidosis
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
This test is not recommended for prenatal testing.
Sialidosis (mucolipidosis I) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of the enzyme neuraminidase.
Galactosialidosis is an autosomal recessive lysosomal storage disease associated with a combined deficiency of neuraminidase and beta-galactosidase secondary to a defect in serine carboxypeptidase/protective protein cathepsin A (PPCA).
Neuraminidase is a particularly unstable enzyme and may be quickly destroyed by freezing, sonication, solubilization, and most purification procedures.
This test cannot discriminate carriers, hence it is not recommended for carrier screening.
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 culture, 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
NEURF: Fluorometric Enzyme Assay
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
Mucolipidosis Type I
Mucolipidosis Type I