Test Catalog

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 situations 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 Library of PDFs including pertinent information and forms related to the test

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

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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
Tay Sachs