A activity in plasma or white blood cells can reliably determine if an individual is a carrier of Tay-Sachs disease. In some instances it may also be important to confirm carrier status by performing gene mutation analysis. Such carrier detection programs have become the prototype for prevention of genetic disease. To date, Tay-Sachs screening programs have detected over 38,000 carriers, or one in approximately every 26 Jewish individuals tested. Since prenatal diagnosis for this disease is available and quite reliable, these couples have the option to have unaffected children.
Prenatal diagnosis is made possible by performing either CVS or amniocentesis .
To date, over 2,500 pregnancies have been monitored. A deficiency occurs in adolescents and adults of Ashkenazi Jewish ancestry. In the fourth decade of life, mental and behavioral involvement may become evident. A gene that causes this form of the disease in Ashkenazi individuals has been identified. Carriers and affected individuals can be diagnosed by the deficiency of the enzyme, hexosaminidase A, or by demonstration of the specific gene mutation.