(Closed) Tay-Sachs Testing

posted 8 years ago in Pregnancy
Post # 17
Member
887 posts
Busy bee
  • Wedding: June 2013

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@MrsWBS:  They offered me the test for it because I have Irish ancestry. It’s about 1/30 (people are carriers) if they are Jewish, Cajun, or french Canadian, and 1/50 for Irish people. The rest of the world, much lower, but still out there. It’s the only ‘jewish-specific’ genetic disease that I know of that other people also get. I don’t understand the science behind this but the genetics counsellor told me it wasn’t even possible to test non-Jewish people for all those Jewish-specific tests (Bloom syndrome, Canavan, etc.) because since it doesn’t exist in non-jews, there is no test with the appropriate markers.

Post # 19
Member
887 posts
Busy bee
  • Wedding: June 2013

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@pmerr:  yes, it’s just a blood test to see if you area carrier for Tay Sachs or any of these other diseases. It can also be tested with a saliva sample, depending on the lab doing it and their preferred methods. The 23andMe thing is a saliva test that you send them back in the mail. I think if you do it through a doctor’s office it would probably be a blood test.

 

Post # 20
Member
887 posts
Busy bee
  • Wedding: June 2013

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@pmerr:  I just re-read your post and if you are already pregnant, it’s a slightly different blood test than the one that men or non-pregnant women would get. Something to do with enzymes… I’m not really sure. Anyways, I wanted to get it done on a Friday afternoon but I ended up having to go back the next week because they ‘stopped taking blood for Tay Sachs tests for pregnant women’ on Thursdays at noon. I think because if you are pregnant they have to process your sample right away because of whatever the enzyme thing is. I’m sure they will do it correctly but maybe just keep an eye out for what the nurses are doing and make sure they are properly labeling your blood as belonging to a pregnant woman, since for the Tay Sachs test it has to be treated differently.

Post # 21
Member
445 posts
Helper bee
  • Wedding: April 2013

I would speak with a genetic counselor.  I used to work in medical records for genetic counselors in reproductive genetics and there are other recessive genetic diseases (which means both you and your husband must be carriers to have a child with the actual disease) that people of Jewish descent can be tested for besides Tay-Sachs (also French Canadians are at higher risk for Tay-Sachs), including cystic fibrosis, Bloom’s disease, Gaucher disease, maple syrup urine disease, Canavan disease, Fanconi anemia, Neimann-Pick disease, and familial dysautonomia are some of the ones I remember.  If you have no Jewish ancestry than the risk is lowered, but it doesn’t hurt to get tested just to be sure.  Good luck to you!!

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