Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
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
Aliases Lists additional common names for a test, as an aid in searching
Hexosaminidase A
Hexosaminidase A Deficiency
Tay-Sachs Disease (TSD)
TSD
TSD (Tay-Sachs Disease)
HEXA
Acetylglucosaminidase A and B Deficiency