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Test ID: BGABS    
Beta-Galactosidase, Blood Spot

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

Diagnosis of beta-galactosidase deficiency (GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis) in blood spot specimens

 

This test is not useful for carrier detection.

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

Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Fluorometric Enzyme Assay

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Beta-Galactosidase, BS

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

B-Galactosidase
Cathepsin A Deficiency
G[M1] Gangliosidosis
Galactosialidosis
Galactosidase, Beta
Generalized Gangliosidosis, G(M1)
GLB1 Deficiency
GM1 Gangliosidosis
Morquio B
Morquio Disease
Morquio Syndrome
Morquio's B
Morquio's Disease
MPS IVB
Mucopolysaccharidosis IVb
PPCA (Protective Protein/Cathepsin A) Deficiency
Protective Protein Deficiency
Protective Protein/Cathepsin A (PPCA) Deficiency
MPS IV
CTSA Deficiency