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Ashkenazi Jewish Genetic Disease

Treatment for Ashkenazi Jewish Genetic Disease at NYM - 718.780.5799

Like individuals of other ethnic groups, individuals of Ashkenazi Jewish descent have been identified as a population at increased risk for several specific genetic diseases. Ashkenazi Jewish individuals are those people whose ancestors lived in Central or Eastern Europe. New York Methodist Hospital offers carrier screening for the seven inherited diseases that are most prevalent among Ashkenazi Jews.

The genetic diseases for which testing is available include:

Tay-Sachs Disease
Tay-Sachs disease causes progressive degeneration of the nervous system, leading to loss of coordination, seizures, and mental retardation. The life expectancy of affected children is three to five years. (The carrier frequency for Tay-Sachs disease in the French Canadian and Cajun populations is also higher than in the general population).

Canavan Disease
Canavan disease affects the nervous system, causing weakness, regression of developmental milestones and mental retardation. There is no treatment for Canavan disease and it is typically fatal in childhood.

Niemann-Pick Disease (Type A)
Niemann-Pick disease is a neurodegenerative disorder. Symptoms included loss of brain function and enlargement of the liver and spleen. The average life expectancy of affected children is two to three years.

Cystic Fibrosis
Cystic fibrosis is a progressive disease which affects the pulmonary, respiratory and digestive systems. People affected with cystic fibrosis lack an enzyme that controls the production of mucus in various parts of the body. Mucus builds up, especially in the lungs, causing breathing difficulties and recurrent lung infections. With new treatments, the life expectancy of a person with CF is now about 30 years of age.

Gaucher Disease (Type I)
Gaucher disease is a disease of the hematological organs, including the liver, bone marrow and spleen. This is an extremely variable disease in severity. One of the major symptoms is enlargement of the spleen and liver. Treatment, which helps to decrease the symptoms in most individuals, is available for Gaucher disease.

Fanconi Anemia (Groug C)
Fanconi anemia is a chronic disease, which is associated with anemia, short height and, occasionally, with learning disabilities or mental retardation. Patients with Fanconi anemia have a high rate of cancer, especially leukemia.

Bloom syndrome
Bloom syndrome causes poor growth and a high rate of cancer. The typical life expectancy is around 30 years of age.

Carrier Frequency and Detection Rates

The carrier frequencies for these diseases, with the exception of CF, are higher in the Ashkenazi Jewish population than in the non-Ashkenazi Jewish population. The table below indicates the carrier frequency and the detection rate of carriers in the Ashkenazi Jewish population. Since genetic carrier tests screen for the mutations that are most common in the Ashkenazi Jewish population, not all carriers are identified. However, negative test results do show a greatly decreased risk for having an affected child. 

Screening Tests
Screening begins with a half-hour educational session, given by a genetic counselor. A small blood sample is then taken and sent to the laboratory where testing is performed. It takes about two weeks for the testing to be completed. When the results are returned, you will receive a letter that reports your carrier status. In addition, if one partner is found to be a carrier of a disease, you will also receive a telephone call from the genetic counselor to discuss the results. If both partners are found to be carriers of the same disease, you will be asked to schedule an appointment with the genetic counselor.

To schedule an appointment, please call the genetic counselor at 718.780.5799.

Insurance Coverage
Most insurance companies cover the cost of testing. If you have questions about your specific insurance carrier, the genetic counselor will be happy to discuss payment and coverage matters with you.

For more information, please call 718.780.5799.

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