Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.

A pilot screening program for the detection of the carrier (heterozygote) of the Tay-Sachs disease (TSD) gene has recently been completed at the Medical University of South Carolina. A fluorometric assay for serum hexosaminidase A and B was performed on the serum of 181 individuals from the Charleston Jewish community. One hundred seventy-six of these individuals were classified as normal based on the percent hexosaminidase A (Hex A) in their serum; five persons were classified as carriers of the Tay-Sachs gene, including a young married couple who were later referred for genetic counseling.