Tay-Sachs Disease Testing

This test is used to diagnose those with Tay-Sachs disease and carriers of the disease. Tay-Sachs Disease Mutation Analysis - This test is used to identify individuals who are carriers of a TSD mutation. It will also confirm a diagnosis of TSD by identifying those individuals who have two TSD mutations. By testing for Pseudodeficiency Alleles, this assay will identify individuals who have been erroneously identified as carriers, due to false-positive result in the standard enzyme assay for beta-N-acetylhexosaminidase activity.
Tay-Sachs Disease
This test requires in-person visit to provider's patient service station near your location
In-person visit
 Venous blood will be collected from your vein by healthcare professional
Blood (Venous)
Next Generation Sequencing, Molecular (PCR), Genetic
Analytes Included
  • β-hexosaminidase A (HexA) mutations