A blood or spit test is all it takes.
Q. How can I tell if I am a carrier?
A. A simple blood test is all that is necessary for screening, much like any other blood test your doctor would do. It is important, however, to get genetic counseling prior to testing so you understand the implications of a positive screening result.
Carriers are healthy, you can’t tell from the outside.
Q. What does it mean to be a carrier?
A. Carriers of a recessive disorder are healthy with no signs of the disorder, and they are not at risk of developing the disorder. If both parents are carriers of a mutation of the same disorder gene, there is a 25% chance of having an affected child, a 50% chance of the child being a carrier like themselves, and a 25% chance of the child being neither affected nor a carrier.
You can still have your own babies.
Q. If both of us are carriers, can we still have children?
A. Yes. There are many reproductive options available to carrier couples, including prenatal diagnosis (chorionic villus sampling or amniocentesis), pre-implantation genetic diagnosis, gamete donation and adoption. You might also opt not to have children or accept the risk of having children without using the options above.
You are NOT safe if you were only tested for Tay-Sachs.
Q. I was tested for Tay-Sachs in high school. Am I safe?
A. No. You would not have been tested for any other Ashkenazi Jewish Disorder.
All Ashkenazi Jews should get tested even if a partner is not Jewish.
Q. I am an Ashkenazi Jew but my partner is not. Should I be tested?
A. All people of Ashkenazi descent can be tested, even if your partner is not Ashkenazi. Some conditions are common to many populations and your children could be affected.
Get screened early.
Q. When is the best time to get screened?
A. The best time to be screened is prior to starting a family. Prior to pregnancy, at-risk couples (those in which both are carriers of a mutation in the same disorder gene) will have the most reproductive options available to them.
Your kids should know.
Q. I already have had my kids, should I still get tested?
A. Even though none of your children are affected, they might still be carriers. Also, there are important studies being fielded now that need participants. See MUHC Study.
These are major decisions and will be impacted by your beliefs and values. It is important to discuss these options with family, friends, your rabbi, your physician and/or genetic counselor when you are considering future pregnancies.