Test Catalog

Test ID: G6SW    
N-Acetylgalactosamine-6-Sulfatase, Leukocytes

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

Preferred test to rule-out mucopolysaccharidosis IVA (Morquio A syndrome)

 

The test is not useful to establish carrier status for Morquio A syndrome.

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

Preferred test to rule-out mucopolysaccharidosis IVA, (MPS IVA, Morquio A syndrome).

 

Not recommended for carrier detection.

Highlights

Morquio A is an autosomal recessive mucopolysaccharidosis caused by reduced or absent N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme activity.

 

Although clinically similar, Morquio A is genetically and enzymatically distinct from Morquio B. Enzyme analysis is necessary to distinguish between the 2.

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

N-Acetylgalactosamine 6 Slft, WBC

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

Galactosamine-6-Sulfatase Deficiency
Galactosamine-6-Sulfatase
Galactose-6-Sulfatase
Morquoi A
Morquoi A Disease
Morquio Syndrome
Morquio Syndrome A
Morquio Syndrome Type A
MPS 4A
MPS IVA
Mucopolysaccharidosis
Galactose-6-Sulphatase