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Genzyme Genetics Expands Test Menu for Ashkenazi Jewish Genetic Diseases

Genzyme Genetics, a business unit of Genzyme General, announced today that it has expanded its menu of tests for childhood genetic diseases found disproportionately among people of Ashkenazi Jewish descent. The new test menu - which now includes Mucolipidosis IV (ML IV) and Familial Dysautonomia (FD) - allows Ashkenazi Jewish couples to determine if they are carriers of up to nine fatal or debilitating genetic diseases. Each parent's carrier status for all nine diseases can be determined through a single blood sample.

Although the incidence of each of these diseases is relatively low across the general population, there is an approximately one-in-five chance that an Ashkenazi Jewish individual will be a carrier for one of them.

"We are proud to be the only commercial laboratory to offer such an extensive test menu for genetic diseases found more commonly among the Ashkenazi Jewish population," said Mara Aspinall, president of Genzyme Genetics. "Our strong commitment to high quality genetic counseling as an essential component of testing gives patients and their doctors the insights they need to make informed reproductive choices."

Debilitating diseases included in the test menu include cystic fibrosis, Canavan disease, Tay-Sachs disease, Bloom syndrome, Fanconi Anemia (Group C), Familial Dysautonomia, Gaucher disease, Niemann-Pick Type A, and ML IV. The American College of Obstetricians and Gynecologists currently recommends that all expectant parents of Ashkenazi Jewish descent have carrier testing for cystic fibrosis, Canavan disease, and Tay-Sachs disease, and many opt for more extensive screening.

Each disease included in the Genzyme Genetics test menu is inherited in an autosomal recessive fashion, which means that both parents must be carriers for their child to be affected. There are nearly 6 million Ashkenazi Jewish individuals living in the United States.

About the Diseases

Following is a brief description of the diseases covered in the panel: Tay-Sachs Disease is a lysosomal storage disorder that results in the buildup of lipids, and causes neurologic degeneration. In its infantile form, death occurs by 5 years of age. Carrier frequency in the Ashkenazi Jewish population is approximately 1 in 30.

Canavan Disease is an inflammatory disorder that affects the central nervous system. Symptoms usually occur within the first few months of life and the disease in fatal in early childhood. Carrier frequency in the Ashkenazi Jewish population is approximately 1 in 40.

Cystic Fibrosis (CF) is characterized by pulmonary and gastrointestinal manifestations of varying severity. Although symptoms vary, most individuals with CF require lifelong medical care and experience reduced life expectancy. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 26.

Gaucher Disease is a lysosomal storage disorder with varying severity among the patient population. Children or adults may have anemia, enlarged liver and spleen, nosebleeds, and bone fractures, and in its most severe and rare form, the brain and nervous system are affected. Gaucher Disease can be effectively treated through enzyme replacement therapy. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 15.

Bloom Syndrome, a disorder of DNA repair, results in poor growth, immune deficiency, sun sensitivity and a high susceptibility to cancer. Death from cancer usually occurs before 30 years of age. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 100.

Fanconi Anemia (Group C) usually presents in early childhood with anemia, short height, and abnormalities of the heart. Patients also have an increased risk of cancer, especially leukemia, and mental deficiency occurs in 25% of all patients. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 89.

Familial Dysautonomia (FD) is a disorder of the autonomic and sensor nervous system resulting in variable symptoms including: insensitivity to pain, labile blood pressures, frequent pneumonia, poor growth, and gastrointestinal problems. Half of all patients with FD die by age 30. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 30. Mucolipidosis Type IV (ML IV), a lysosomal storage disorder, is a progressive neurologic disease characterized by severe psychomotor delay and corneal clouding. Onset is usually within the first year of life, and maximal developmental age is usually 15 months. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in122.

Niemann-Pick Disease (Type A) , also a lysosomal storage disorder, causes poor growth in infancy, enlargement of the liver, and progressive mental and physical deterioration. There is no treatment and death typically occurs by age 4 years. The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 90.

Genzyme Genetics is a leading provider of high quality genetic testing and counseling services for patients and their physicians. Genzyme Genetics offers comprehensive prenatal and cancer genetic testing services, supported by innovative technology and a commitment to advancing the knowledge of patients and health care professionals. Genzyme Genetics is a business unit of Genzyme General.

Genzyme General develops and markets therapeutic products and diagnostic products and services. Genzyme General has five therapeutic products on the market, and a strong pipeline of therapeutic products in development focused on the treatment of genetic disorders and other chronic debilitating diseases with well-defined patient populations. Genzyme General is a division of the biotechnology company Genzyme Corporation.

For more information call 508-872-8400.


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