NEURF - Overview: Neuraminidase, Fibroblasts

Test Catalog

Test Name

Test ID: NEURF    
Neuraminidase, Fibroblasts

Useful For Suggests clinical disorders or settings where the test may be helpful

Aids in the diagnosis of sialidosis and galactosialidosis

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test is not recommended for prenatal testing.

Highlights

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 tests that are always performed, at an additional charge, with the initial tests

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situations 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 Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the 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.

Yes

Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

Neuraminidase, Fibroblasts

Aliases Lists additional common names for a test, as an aid in searching

Alpha-Neuraminidase
Galactosialidosis
Mucolipidosis Type I
Sialidase
Sialidosis
ML1
Neuraminidase Deficiency