What is the Tay-Sachs enzyme test?
A white blood cell test identifies TSD gene carriers by measuring Hexosaminidase A (Hex-A) enzyme activity. This test should only be performed by an internationally certified lab. If the test shows you are a carrier, DNA testing is recommended to see whether this test result is caused by a TSD gene or by a change in the TSD gene that does not increase your risk for having a baby with TSD. Who should have TSD carrier testing? • Individuals of Eastern European Jewish, Quebec French Canadian, and Cajun ancestries. • Individuals with a family history of TSD, regardless of ancestry. • Both mother and father during pregnancy if one or both have Jewish, Quebec French Canadian, and Cajun ancestry and carrier testing has not been performed by 13 weeks LMP. (ACOG No.93, March 1991). Which other disorders occur more often with Jewish ancestry? • BLOOM SYNDROME (BS) BS is a rare disorder characterized by growth retardation, decreased immune system function, sun-sensitivity erythema and a high rate
