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Screening for Other Genetic Diseases

Canavan disease is one of nearly 60 diseases currently on the Jewish Genetic Disease Consortium's list of genetic conditions that affect persons of Ashkenazi Jewish heritage more frequently than the general population. Anyone who is considering screening for Canavan disease because of Jewish heritage should consider screening for the entire list of Ashkenazi Jewish genetic diseases.  

Note:  For the most sensitive and accurate carrier detection available for Tay-Sachs, the Canavan Foundation highly recommends either: 1) a combination of DNA and biochemical carrier screening (enzyme analysis), or 2) next generation sequencing of the HEXA (Tay-Sachs) gene. There may be different costs associated with these approaches, so it is best to consult with a genetic counselor before proceeding.

Individuals of Ashkenazi ancestry should note that screening for one of the diseases on the list, Gaucher disease, may reveal that the individual actually has the disease. For more information visit the Medline Plus article on Gaucher and the National Gaucher Foundation.

There is a separate list of diseases of concern to persons of Sephardic (Mediterranean) and Mizrahi (Persian and Middle Eastern) Jewish heritage. Visit the Jewish Genetic Disease Consortium website for a complete disease list.

You may wish to learn more about Jewish identify and heritage in the US and how they affect genetic screening recommendations.

Preconception screening for Cystic Fibrosis and Spinal Muscular Atrophy (SMA) is recommended for anyone who is considering starting or adding to a family, no matter what their ancestry. Preconception screening for other diseases is recommended for other ethnic groups and for people with a family history of genetic disease.

Your doctor or a genetic counselor can help you understand which other screening might be right for you. Speak to your doctor about genetic screening.

For more information on the screening process, watch the video  A Genetic Counselor on Screening.