Test ID: TSD
Tay-Sachs Disease, Mutation Analysis, HEXA
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
| AFC | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MCC | Maternal Cell Contamination, B | Yes | No |
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
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)
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