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Test ID MUGS Hexosaminidase A, Serum

Useful For

Second-order test for diagnosing the B1 variant of Tay-Sachs disease

 

This test is not useful for testing for Sandhoff disease.

Method Name

Fluorometric

Reporting Name

Hexosaminidase A (MUGS), S

Specimen Type

Serum


Ordering Guidance


Testing for Tay-Sachs Disease and Sandhoff Disease

The following tests are available for diagnostic and carrier testing for Tay-Sachs and Sandhoff diseases.

 

NAGR / Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood:

-This is the recommended test for carrier testing for Tay-Sachs disease and Sandhoff disease.

-Testing begins with hexosaminidase A and total enzyme analysis. If the results are consistent with an affected or carrier for Tay-Sachs disease or Sandhoff disease, next-generation sequencing to detect single nucleotide and copy number variants for HEXA or HEXB, respectively, will automatically be performed on the original specimen.

-This test is appropriate for males and pregnant or nonpregnant females.

 

NAGW / Hexosaminidase A and Total Hexosaminidase, Leukocytes:

-This test can be used for diagnosis and carrier testing for Tay-Sachs disease or Sandhoff disease.

-Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate. All follow-up testing must be ordered separately on new specimens.

-This test is appropriate for males and pregnant or nonpregnant females.

 

NAGS / Hexosaminidase A and Total Hexosaminidase, Serum:

-This test can be used for diagnosis and carrier testing for Tay-Sachs disease or Sandhoff disease. Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate.

-If results indicate normal, indeterminate, or carrier status and the suspicion of Tay-Sachs disease remains high, MUGS / Hexosaminidase A, Serum for Tay-Sachs disease (B1 variant) can typically be added and performed on the same specimen.

-With the exception of MUGS, all follow-up testing must be ordered separately on new specimens.

-This test is not appropriate for pregnant females or women receiving hormonal contraception. This test is appropriate for males and nonpregnant females.

-This test is particularly useful when it is difficult to obtain enough blood to perform leukocyte testing (NAGR or NAGW), as may be the case with infants.

 

MUGS / Hexosaminidase A, Serum:

-This is the recommended test for diagnosis and carrier testing for the B1 variant of Tay-Sachs disease. This test will not detect Sandhoff disease.

-This test should not be ordered as a first-line test. Rather, this test should be ordered when the NAGR, NAGW, or NAGS indicate normal, indeterminate, or carrier results and the suspicion of Tay-Sachs disease remains high. In most cases, this test can be performed on the original specimen collected for NAGS.



Necessary Information


Physician's name and phone number are required.



Specimen Required


Patient Preparation: Patient should be fasting for 4 hours.

Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Specimen Volume: 1 mL


Specimen Minimum Volume

0.15 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Frozen (preferred) 365 days
  Refrigerated  5 days

Reference Values

1.23-2.59 U/L (normal)

1.16-1.22 U/L (indeterminate)

0.58-1.15 U/L (carrier)

Day(s) Performed

Monthly

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83080

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MUGS Hexosaminidase A (MUGS), S 2643-5

 

Result ID Test Result Name Result LOINC Value
80350 Hexosaminidase A (MUGS), S 2643-5

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 US Food and Drug Administration.

Report Available

30 to 45 days

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 a Biochemical Genetics Test Request (T798) with the specimen.