HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis

Test Catalog

Test Name

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

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

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

The following algorithms are available in Special Instructions:     

Tay-Sachs Disease Carrier Testing Protocol

Tay-Sachs and Related Disorders Diagnostic Testing Algorithm

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

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

Yes

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)
HEXMS