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

Useful For

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

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.

Method Name

Fluorometric

Reporting Name

N-Acetylgalactosamine 6 Slft, WBC

Specimen Type

Whole Blood ACD


Advisory Information


This test cannot be used to establish carrier status for Morquio A syndrome.



Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive within 168 hours (7 days) of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A)

Specimen Volume: 6 mL

Collection Instructions: Do not transfer blood to other containers.


Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 7 days YELLOW TOP/ACD
  Ambient  7 days YELLOW TOP/ACD

Reference Values

≥92 nmol/17 hour/mg protein

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
G6SW N-Acetylgalactosamine 6 Slft, WBC 24096-0

 

Result ID Test Result Name Result LOINC Value
62409 N-Acetylgalactosamine 6 Slft, WBC 24096-0
35778 Interpretation (G6SW) 59462-2
35777 Reviewed By 18771-6

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.

NY State Approved

Yes

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Testing Algorithm

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.