Unit Code 80946:
N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts
Useful For
Assisting in the diagnosis of Morquio A disease
Testing Algorithm
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
Method Name
80946: Enzymatic/Radiolabeled/Anion Exchange Chromatography
8482: Cultivated from Biopsy as Monolayer
88832: Fibroblast Subculture Followed by Cryopreservation
and Storage
Reporting Name
N-Acetylgalactosamine 6 Slft, Fibro
Ordering Mnemonic
G6ST
Aliases
Galactosamine-6-Sulfatase Deficiency
Galactosamine-6-Sulfatate Sulfatase
Galactose-6-Sulfatase
Morquio A
Morquio A Disease
Morquio Syndrome
Morquio Syndrome A
Morquio Syndrome Type A
MPS 4A
MPS IVA
Mucopolysaccharidosis IV A
External
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