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.
Next Generation Sequencing, Molecular (PCR), Genetic
- β-hexosaminidase A (HexA) mutations