Test Catalog

Test ID: G6ST    
N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts

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

Assisting in the diagnosis of Morquio A syndrome in fibroblast specimens


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

Not recommended for carrier detection.


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.

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 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

G6ST: Fluorometric

FIBR: Cultivated from Biopsy as Monolayer

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

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


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

N-Acetylgalactosamine 6 Slft, Fibro

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

Galactosamine-6-Sulfatase Deficiency
Galactosamine-6-Sulfatate Sulfatase
Morquio A
Morquio A Disease
Morquio Syndrome
Morquio Syndrome A
Morquio Syndrome Type A
Mucopolysaccharidosis IV A