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Why is Tay-Sachs carrier testing often offered to people of Ashkenazic Jewish ancestry?
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Tay-Sachs carrier testing is offered to individuals of Ashkenazic Jewish ancestry because this population has a significantly higher frequency of the Tay-Sachs disease gene compared to the general population. While the incidence of the disease is approximately 1 in 2,500 among Ashkenazic Jewish infants, it is roughly 1 in 360,000 in non-Jewish populations.12
Approximately 1 in 25 Ashkenazic Jews is a carrier of the gene. Because the condition is inherited as an autosomal recessive trait, carrier testing is a vital tool for prospective parents. Providing this information allows couples to make informed family-planning decisions. Genetic counseling is typically involved in this process to help individuals understand their risks and options.12