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 genes for these conditions (called carrier testing). Testing may be recommended for people of Ashkenazi Jewish heritage who plan to have children or are pregnant.

Diseases in this group include:

• Bloom syndrome. Babies with this disease are born small and remain shorter than normal as they grow. Their skin may look red, and they have more lung and ear infections than children normally have.
• Canavan disease. This disease gradually destroys brain tissue.
• Cystic fibrosis. This disease causes very thick mucus in the lungs and problems with digesting food.
• Familial dysautonomia. People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination.
• Fanconi anemia (group C). People with this problem do not have enough blood cells and have problems with the heart, kidneys, arms, or legs. They also are more likely to get cancer.
• Gaucher disease. This disease causes a type of fat called glucocerebroside to build up in certain cells of the liver, spleen, and bone marrow.
• Mucolipidosis IV. This problem causes the nervous system to deteriorate, or break down, over time.
• Niemann-Pick disease (type A). This disease causes a type of fat called sphingomyelin to build up in cells of the liver, spleen, lymph nodes, and bone marrow.
• Tay-Sachs disease. This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system.

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 with this heritage or a family member who has a disease listed in this panel, you may want to consider testing.

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 counseling can help you understand your risks and options when you are thinking about having a child.
• If you are already pregnant, you may want to talk with your doctor about genetic counseling and testing for your baby. Your baby may be tested using a sample of your blood or an amniocentesis or chorionic villus sampling.

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Is the Test Accurate?

The genetic panel test is highly accurate to show whether or not a person is a carrier of an Ashkenazi Jewish genetic disease. But no genetic test is 100% accurate. There is a small chance that you are a carrier even if the results are normal.

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 (preimplantation genetic testing) before being implanted.

You may decide to have carrier tests if you are already pregnant and the test results will affect your decision to continue your pregnancy or 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.
• Carrier tests are expensive. You may decide not to have the tests if your insurance does not pay for them.
• The tests are not 100% accurate. There is a small chance that you are a carrier even if the results are normal (false-negative).