Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Types of Screening

Types of Screening

There two types of carrier screening tests: DNA and enzyme (biochemical). Tay-Sachs and Sandhoff carrier screening can be performed using DNA and enzyme testing. A combination of both DNA and enzyme are recommended for the most accurate results.

DNA (Molecular) Screening

DNA carrier screening detects specific known mutations that are "looked" for in the test. A negative DNA carrier result reduces the risk that you are a carrier, but does not eliminate your chances of being a carrier because of the possibility you carry an unknown mutation or one not "looked" for in the test.

Enzyme (Biochemical) Screening

Biochemical testing is also referred to as an enzyme assay. It detects the level of enzyme in the blood. Enzyme assays can be done using serum or leukocytes isolated from blood.

Serum testing is the standard test but leukocyte testing is recommended when the person being screened is pregnant, on birth control pills or taking any medications that affect hormones; all of these situations can potentially interfere with the accuracy of the serum test. 

NOTE: A combination of DNA and enzyme testing is strongly recommended for Tay-Sachs screening for the most sensitive and accurate results. View the  NTSAD Position Statement on Tay-Sachs Screening.


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