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Test ID: HEXMS    
Tay-Sachs Disease, HEXA Gene, Full Gene Analysis

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89278

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

Conditional

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

Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD)

 

Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified

 

Testing individuals with enzyme activity consistent with carrier status but negative molecular testing by a panel of common mutations

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

Method Name A short description of the method used to perform the test

Polymerase chain reaction (PCR) amplification/DNA sequencing are utilized to test for the presence of a mutation in the HEXA gene
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

HEXA Gene, Full Gene Analysis

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

Hexosaminidase
Hexosaminidase A
Tay-Sachs
Tay-Sachs disease (TSD)
TSD (Tay-Sachs disease)