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Test ID: TSD    
Tay-Sachs Disease, Mutation Analysis, HEXA

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


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

Carrier testing of individuals of Ashkenazi Jewish ancestry or who have a family history of Tay-Sachs disease


Determining carrier status for individuals with enzyme activity within the carrier or equivocal ranges


Prenatal diagnosis for at-risk families


Confirmation of suspected clinical diagnosis of Tay-Sachs disease in individuals of Ashkenazi Jewish ancestry

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

Familial mutations and carrier screen results must be known prior to prenatal testing. Mutations and alterations tested for include 1278insTATC, IVS9(+1)G->A, IVS12(+1)G->C, G269S, delta7.6kb, R247W (pseudodeficiency allele), and R249W (pseudodeficiency allele).

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

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

For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. 


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

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

Polymerase chain reaction (PCR) analysis is used to test for the following mutations associated with Tay-Sachs disease: 1278insTATC, G269S, IVS12(+1)G->C, IVS9(+1) G->A, delta 7.6kb, R247W, R249W.

(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

Tay-Sachs, Mutation Analysis

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

Acetylglucosaminidase A & B Deficiency
GM2 Gangliosidosis
Hexosaminidase A
Hexosaminidase A Deficiency
Tay-Sachs Disease (TSD)
TSD (Tay-Sachs Disease)