Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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
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).
Test ID | Reporting Name | Available Separately | Always Performed |
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CULFB | Fibroblast Culture for Genetic Test | Yes | No |
CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
MATCC | Maternal Cell Contamination, B | Yes | No |
For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent 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.
The following algorithms are available in Special Instructions:
-Tay-Sachs Disease Carrier Testing Protocol
-Tay-Sachs and Related Disorders Diagnostic Testing Algorithm
Polymerase Chain Reaction (PCR) Analysis