What Is an Ashkenazi Jewish Genetic Panel (AJGP)?

The Ashkenazi Jewish genetic panel is a test to look for certain rare diseases. These diseases occur most often in people of Central and Eastern European (Ashkenazi) Jewish heritage. Most of these diseases can't be treated, and they can cause severe disability and a shortened lifespan.

Genetic testing can show if a person carries a change in a gene that causes one or more of these conditions (called carrier testing). People who are carriers for a condition are healthy, but they have a higher chance of having a child who has the condition if their partner is also a carrier. Testing is available for people of Ashkenazi Jewish heritage who plan to have children or are pregnant.
There are Canadian guidelines on the specific conditions for which testing should be offered. These include:

Canavan disease.

This disease gradually destroys brain tissue.

Familial dysautonomia.

People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination.

Tay-Sachs disease.

This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system.

Other conditions can happen more commonly in people of Ashkenazi Jewish heritage. But testing is usually offered only if there is a family history of the condition.

What Is Carrier Screening?

A carrier is a person who can pass a genetic disease on to their children. Carrier screening is a type of genetic test. It can help show whether people in high-risk groups for a specific disease (certain ethnic groups or people who have a family history of the disease) are likely to pass that disease to their children. This type of test can guide a couple's decision about having children and making choices about genetic tests during a pregnancy.

Who Should Be Tested?

The Ashkenazi Jewish genetic panel can tell people if they have an increased chance of having a child with certain genetic diseases. This testing may be recommended for people with Ashkenazi Jewish heritage who plan to have children or are pregnant. If you or your partner has a grandparent who is of Ashkenazi Jewish heritage, you may want to consider testing. If you or your partner have a family member who has a disease listed on this panel be sure to discuss this with your care provider to ensure the most appropriate test is arranged.

What If You Are a Carrier?

If tests show that you are a carrier of a genetic disease, your partner also should be tested. In most cases, both parents must be carriers for a child to get the disease.

• If you were tested before getting pregnant, genetic counselling can help you understand your risks and options if you decide to have children.
• If you are already pregnant, you may want to talk with your doctor about genetic counselling and prenatal testing for your baby. Your baby may be tested using a sample of your blood or an amniocentesis or chorionic villus sampling.

Explore more

Is the Test Accurate?

The genetic panel test is highly accurate for people of Ashkenazi Jewish heritage for the conditions tested. But no genetic test is 100% accurate. There is a small chance that you are a carrier even if the results are normal. If you are not of Ashkenazi Jewish heritage and your healthcare provider recommends testing for one of these conditions, a different type of test may be right for you.

Should You Be Tested?

The decision to be tested is a personal one. You may wish to be tested if you are concerned that you or your partner might be a carrier of a disease that is on the test panel. Being a carrier is more likely if you have a family member with the disease.

Some people choose to get tested before having children. If the results show that one or both partners carry these genes, there are options for family planning, such as:

• Adopting a child rather than having a biological child.
• Using donor sperm or eggs.
• Having in vitro fertilization (IVF) so the embryos can be genetically tested (pre-implantation genetic testing) before being implanted.

You may decide to have carrier testing if you are already pregnant and want a prenatal diagnosis, or if the test results will help you make decisions about caring for your baby.

If you find out you are a carrier of one of these genetic conditions, other members of your family (such as your brothers and sisters) may want to get tested too.

There may be reasons you would choose not to have the carrier tests.

• You are already pregnant and the results will not affect your decision to continue your pregnancy.
• The tests are not 100% accurate. There is a small chance that you are a carrier even if the results are normal (false-negative).