Test Catalog

Test ID: TSDP    
Tay-Sachs Disease, HEXA Mutation Analysis, Varies

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 Tay-Sachs disease carrier status for individuals with enzyme activity within the carrier or equivocal ranges


Prenatal diagnosis of Tay-Sachs disease 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 genetic test or proper submission of the test request

Familial variants and carrier screen results must be known prior to prenatal testing. Variants 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 tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, a amniotic fluid culture will be added at an additional charge. If a chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added at an additional charge. For any prenatal specimen that is received, maternal cell contamination studies will be added.


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)/Targeted Sanger Sequencing

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


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

Tay-Sachs, Mutation Analysis

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

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