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Tay-Sachs, Canavan, GM1, and Sandhoff diseases
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A combination of DNA and enzyme testing is strongly recommended for Tay-Sachs screening for the highest level of detection. Most labs only offer DNA testing for Tay-Sachs. Be sure to request a laboratory that performs both DNA and enzyme testing.
It is also important that your genetic screening is tailored to you and your family history. For example, individuals of Ashkenazi Jewish ancestry are known to have different mutations than individuals from the French Canadian population. It’s important to make sure that you do carrier screening specific to your ancestry.
Some labs offer expanded panels with many conditions aimed at couples with mixed or unknown ancestry. Discuss your interest in carrier screening with your genetics professional and determine which testing is best suited for you.
For more information, visit the Types of Screening page.