|Values are valid only on day of printing.|
Aids in the diagnosis of sialidosis and galactosialidosis
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.
|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 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.
NEURF: Fluorometric Enzyme Assay
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage