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Test Code G6ST N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts

Reporting Name

N-Acetylgalactosamine 6 Slft, Fibro

Useful For

Assisting in the diagnosis of Morquio A disease

Additional Tests

Test ID Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes Yes
CRYOB Cryopreserve for Biochem Studies No Yes

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.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Tissue


Specimen Required


This test is not recommended for prenatal testing.

 

Forms: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

 

Submit only 1 of the following specimens:

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [Supply T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Minimum Volume

NA

Specimen Stability Information

Specimen Type Temperature Time
Tissue Varies

Reference Values

≥163 nmol/17 hour/mg protein

Day(s) and Time(s) Performed

Varies

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657-N-Acetylgalactosamine-6-sulfate sulfatase

88233-Fibroblast culture

88240-Cryopreservation for biochemical studies

LOINC Code Information

Test ID Test Order Name Order LOINC Value
G6ST N-Acetylgalactosamine 6 Slft, Fibro In Process

 

Result ID Test Result Name Result LOINC Value
35766 N-Acetylgalactosamine 6 Slft, Fibro 24095-2
29726 Interpretation (G6ST) 59462-2
29728 Reviewed By No LOINC Needed

Method Name

G6ST: Fluorometric

FIBR: Cultivated from Biopsy as Monolayer

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage