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

Method Description Describes how the test is performed and provides a method-specific reference

Morquio A disease (MPS IVA) results from a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme. This enzyme hydrolyzes a sulfate group from the 6 position of galactose at the nonreducing terminus of the mucopolysaccharides, keratin sulfate and chondroitin-6 sulfate.

 

In this procedure, the tritiated disulfated trisaccharide, (6-DGalNAc-6-SO[4]) 1-4(beta-DGlcU)1-3 (D-[3]H GalNac-ol-6-SO[4]), is used as the substrate. The enzyme hydrolyzes the substrate to form inorganic sulfate and the labeled monosulfated trisaccharide. The monosulfated product is then separated from the disulfated substrate by anion exchange chromatography. The product is then quantitated by scintillation counting. (Glosse J, Kress H: A sensitive procedure for the diagnosis of N-acetylgalatosamine-6-sulfate sulfatase deficiency in classical Morquio's disease. Clin Chim Acta 1978;88:111-119)

Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.

Varies

Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

30-60 days depending on rapidity of growth

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result

60 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

3 years - Check with the lab for availability

Performing Laboratory Location The location of the laboratory that performs the test

Rochester