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Test ID: BGA    
Beta-Galactosidase, Leukocytes

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

Diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis

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

Not available or suitable for carrier detection.

Highlights

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

 

Careful review of clinical findings will help distinguish between GM1 gangliosidosis and Morquio syndrome type B.

A diagnosis of galactosialidosis must be additionally demonstrated by a deficiency of neuraminidase (NEURF / Neuraminidase, Fibroblasts).

 

This test is not suitable for carrier detection.

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

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, Leukocytes

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

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