Ashkenazi Jewish Genetic Panel (AJGP)

Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during pregnancy through Reference chorionic villus sampling (CVS) Opens New Window or Reference amniocentesis Opens New Window. This testing is done usually if one or both parents are Reference carriers Opens New Window of a genetic disease.

Diseases in this group include:

• Reference Bloom syndrome Opens New Window. 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.
• Reference Canavan disease Opens New Window. This disease gradually destroys brain tissue.
• Reference Cystic fibrosis Opens New Window. This disease causes very thick mucus in the lungs and problems with digesting food.
• Reference Familial dysautonomia Opens New Window (FD). People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination.
• Reference Fanconi anemia Opens New Window. 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.
• Reference Gaucher disease Opens New Window. This disease causes a type of fat called glucocerebroside to build up in certain cells of the liver, spleen, and bone marrow.
• Reference Mucolipidosis IV Opens New Window. This problem causes the nervous system to deteriorate, or break down, over time.
• Reference Niemann-Pick disease Opens New Window (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.
• Reference Tay-Sachs disease Opens New Window. This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system.
• Reference Torsion dystonia Opens New Window. People with this problem have ongoing spasms that twist the muscles in their arms, legs, and sometimes their body. Testing for this condition may not always be done.

About 1 out of 4 people of Ashkenazi Jewish heritage is a carrier of one of these genetic conditions, most commonly of Gaucher disease, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, or Canavan disease.^{Reference 1}

Opens New Window Pregnancy: Should I Have Amniocentesis? Opens New Window

Opens New Window Pregnancy: Should I Have Chorionic Villus Sampling? Opens New Window

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