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Genzyme Genetics Announces Launch of Carrier Testing and Prenatal Diagnosis for Spinal Muscular Atrophy
Date:4/14/2008

of cases, children with SMA die from respiratory failure by age two.

Greater than 94% of SMA carriers have a deletion of one SMN1 gene. Genzyme's new test utilizes quantitative PCR (polymerase chain reaction), a technology that can determine the number of SMN1 genes. An individual with one SMN1 gene is a carrier of SMA; a fetus with no SMN1 genes will be affected with SMA. SMA is caused when both parents have only one SMN1 gene. Approximately one in 41 people is a carrier of the SMA-causing gene, resulting in an incidence rate of 1 in 6,000-10,000 births. If both parents are found to be carriers, prenatal diagnosis by chorionic villi sampling or amniocentesis is available.

"Carriers of SMA have no symptoms of the disease and rarely have a family history of SMA," says Stirling M. Puck, M.D., of Genzyme Genetics. "Therefore, carrier screening for this disease should be widely available to ensure people are aware of their chances of having a child with SMA. Advancements in technology have led to the ability to detect approximately 94 percent of carriers, and then to offer prenatal testing to at-risk parents; these advancements will help couples planning a pregnancy make informed decisions."

The rights to perform SMN1 testing are provided under license from Athena Diagnostics, part of Thermo Fisher Scientific Inc.

About SMA

SMA is an autosomal recessive disease which causes severe weakness in the muscles that control breathing, swallowing, head and neck control, walking and crawling. After cystic fibrosis, which is routinely screened for in the general population, SMA is the second most common lethal autosomal recessive disease in the United States. Other examples of autosomal recessive conditions include sickle cell anemia, and Tay-Sachs disease.

About Genzyme Genetics

Genzyme Genetics is a leading, nationwide provider of high quality genetic testing and genetic counseling services for physicians and their patients. Wit
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SOURCE Genzyme Corporation
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