Wednesday, November 18, 2015

Jewish Genetic Diseases

Jewish Genetic Diseases

Ashkenazi Jewish Genetic Diseases: 19 Disease Panel
Ashkenazi Jewish Genetic Diseases: 38 Disease Panel
Sephardic/Mizrahi Jewish Genetic Diseases
There are a number of genetic disease for which persons of Jewish heritage (at least one grandparent) are more likely to be carriers of than the general population. Carriers are healthy individuals, unaffected by the disease for which they carry. If both parents are carriers of a gene mutation for the same condition, there is a 25% chance, with each pregnancy, of having an affected child. These diseases are all serious and can be fatal and or life altering to children born with them.
There are different genetic concerns for people of Ashkenazi Jewish background (German, French or Eastern European), and people of Sephardic (Mediterranean) or Mizrahi (Persian/Iranian or Middle Eastern) background. Regardless of specific Jewish background, all Jewish and interfaith couples should have preconception carrier screening for the Jewish genetic diseases

Ashkenazi Diseases

It is estimated that nearly 1 in 2 Ashkenazi Jews in the United States is a carrier of at least one of 38 Jewish genetic diseases. Please be aware that there are many laboratories offering Ashkenazi Jewish genetic disease screening with varying panels. Individuals may also opt to do expanded carrier screening to include disorders not necessarily more common in the Ashkenazi Jewish ancestry (Pan Ethnic Panels). You should discuss these options with your physician or genetic counselor.

Sephardic and Mizrahi Diseases

There is no single preconception carrier-screening panel for people of Sephardic or Mizrahi background. Carrier screening is dependent upon country of origin. People of Sephardic or Mizrahi background should seek genetic counseling.