What Is the Ashkenazi Jewish Genetic Panel?

Many different generic diseases can be passed down from parents to child, and some of these are more common among Jewish families. Even if you don’t have one of the diseases, you could be a carrier and could pass it along to your child.

A test called an Ashkenazi Jewish (AJ) genetic panel can help let you know how likely that is.

What Does This Test Check For?

About 85% of Jewish Americans have an Ashkenazi Jewish background. Their families came from Eastern or Central Europe. As many as 1 in 4 people in this group is a carrier of an AJ genetic disease.

These include:

All AJ diseases are serious and can alter the life of a child. While treatments exist for some of these conditions, none have cures. In some cases, these conditions can be fatal.

Should I Be Tested?

If you, your partner, or both of you are of Ashkenazi Jewish descent, you can talk to your doctor about testing. The ideal time to do so is before you have children. This gives you time to learn the results and make any further decisions.

How Is the Genetic Panel Done?

Some tests use a sample of your blood to look for the genes that can cause these diseases. Others use your saliva. Your doctor can order this for you or you could choose to be screened through an online genetic program.

Once you submit your sample, it can take a few weeks to get your results.

Continued

What Do the Results Mean?

If your results are negative, you aren’t a carrier for any of the AJ diseases included in the test. There’s nothing else you need to do.

If both you and your partner are screened and the results show that only one of you is a carrier, your baby isn’t at risk of having one of these diseases. Still, there’s a 50% chance that your child will inherit a mutated gene. This means he could pass a disease on to his own child one day.

The test results could also show that you and your partner are both carriers of a gene that causes an AJ disease. If so, there’s a 25% chance that your child’s health will be affected.

What Should We Do If We’re Both Carriers?

There are just a few ways to ensure that you won’t pass on an AJ disease to your baby. The choices include:

  • Use an egg or sperm from a donor who’s not a carrier of AJ disease.
  • Adopt a child.
  • Don’t have children.

Another way is called pre-implantation genetic diagnosis (PGD). A couple’s eggs are fertilized. Once the embryos start to grow, doctors inspect them for any mutated genes. Only healthy embryos are transferred back to the uterus.

Some couples also decide to go ahead with a natural pregnancy, then have their baby’s health tested during the first or second trimester of pregnancy.

Based on your test results, you may want to speak to a genetic counselor. This is someone who’s trained to help people learn about a genetic condition they have. She can talk to you about the options you have during and after pregnancy.

WebMD Medical Reference Reviewed by Melinda Ratini, DO, MS on March 20, 2017

Sources

SOURCES:
Jewish Genetic Disease Consortium: “Jewish Genetic Diseases,” “Genetics and Carrier Screening.”

Genetics in Medicine: “Carrier screening in individuals of Ashkenazi Jewish descent.”

JScreen: “Questions about Genetic Testing.”

National Coalition for Health Professional Education in Genetics: “Eastern European Ashkenazi Jewish Disorders.”

National Center for Advancing Translational Sciences/Genetic and Rare Diseases Information Center: “Niemann-Pick disease Type A,” “Bloom Syndrome.”

University of California San Francisco Medical Center: “Ashkenzai Jewish Carrier Testing,” “Pre-Implantation Genetic Diagnosis.”

Mount Sinai School of Medicine, “Jewish Genetic Diseases Screening Program.”

University of Pennsylvania Health System: “Prenatal Genetic Testing Program at Penn.”

CDC: “Genetic Counseling.”

© 2017 WebMD, LLC. All rights reserved.

Pagination