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Test ID: NAGW    
Hexosaminidase A and Total Hexosaminidase, Leukocytes

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NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Useful For Suggests clinical disorders or settings where the test may be helpful

Carrier detection and diagnosis of Tay-Sachs disease

 

Carrier detection and diagnosis of Sandhoff disease (testing option-this is not the recommended test)

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

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 / 82943 Hexosaminidase A and Total, Leukocytes/Molecular Reflex:

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

-Testing begins with hexosaminidase A and total enzyme analysis. If the results are consistent with an affected or carrier individual, Tay-Sachs mutation analysis will automatically be performed on the original specimen.

-This is not the recommended test for Sandhoff disease; however, if the results are suggestive of Sandhoff disease or carrier status, this will be indicated in the interpretive comment along with recommendations for additional testing. Follow-up testing for Sandhoff must be ordered separately.

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

 

NAGW / 8775 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 / 8774 Hexosaminidase A and Total Hexosaminidase, Serum:

-This is the recommended test for diagnosis and carrier testing for Sandhoff disease. This test also can be used for diagnosis and carrier testing for Tay-Sachs 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 not appropriate for pregnant females. This test is appropriate for males and nonpregnant females.

-Although a leukocyte test is preferred for Tay-Sachs disease, this test can be used if it is potentially difficult to obtain enough blood to perform testing, as is the case with infants.

 

MUGS / 80350 Hexosaminidase A (MUGS), Serum:

-This is the recommended test for diagnosis and carrier testing for the B1 variant of Tay-Sachs disease.

-This test is performed on serum using the natural substrate. It should not be ordered as a first-line test. Rather, this test should be ordered when the NAGR, NAGW, NAGS indicate normal 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.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Tay-Sachs Disease Carrier Testing Protocol in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Hexosaminidase A and Total, WBC

Aliases Lists additional common names for a test, as an aid in searching

B-N-Acetylglucosaminidase
Beta-N-Acetylglucosaminidase
GM2 Gangliosidosis
Hex A Deficiency
Hexosaminidase A
Hexosaminidase A and Total
Hexosaminidase Total (WBC)
Sandhoff Carrier Screening
Sandhoff Carrier Testing
Sandhoff Disease
Sandhoff Disease Carrier Screening
Tay Sachs Carrier Screening
Tay Sachs Carrier Testing
Tay Sachs Disease
Tay Sachs Disease Carrier Screening
Tay-Sachs Carrier Screening
Tay-Sachs Carrier Testing
Tay-Sachs Disease (TSD)
TSD (Tay-Sachs Disease)
Hexosaminidase A and B