Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease

Tay-Sachs disease is a severe, neurodegenerative disease fatal in childhood that is caused by deficiency of the enzyme β-hexosaminidase A (Hex A) (1 ). Tay-Sachs is most common in the Ashkenazi Jewish population, with an incidence of 1/3600 affected individuals and a carrier rate of approx 1 in 30 (1 ). Owing to the severity of the disease and the high incidence, carrier screening for Tay-Sachs disease has been available to Ashkenazi Jewish individuals since the 1970s, which has greatly reduced the number of affected children in this population. The standard method of carrier testing is by biochemical analysis for reduced Hex A activity in serum (2 ).