WESTBOROUGH, Mass., April 14 /PRNewswire-FirstCall/ -- Genzyme Genetics, a business unit of Genzyme Corporation , announced today that it is the first national laboratory specializing in reproductive testing to provide population carrier and prenatal diagnostic testing for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. This test will enable couples who are planning a pregnancy, or who are already pregnant, to determine if they are carriers and at risk of having a baby with SMA.
“With no cure currently available, the best method for preventing SMA is carrier testing,” said Deborah Heine, Executive Director of the Claire Altman Heine Foundation, a nonprofit organization devoted to promoting pan-ethnic SMA carrier screening. “The availability of this test will now allow individuals and couples of childbearing age to make more informed reproductive decisions regarding the risk of SMA and, hopefully, prevent the suffering of losing a child to this devastating disease.”
Deborah and Chris Heine lost their daughter, Claire, to SMA at the age of 9 months. The Heines were not offered SMA carrier screening during a pre-conception consultation and have worked since that time to implement pan-ethnic SMA carrier screening.
The Genzyme Genetics SMA test offers results in approximately 7 to 11 days and is expected to have an approximately 94 percent detection rate of carriers overall and approximately the same detection rate for the most common and severe types of SMA in affected fetuses. SMA is characterized by progressive muscle degeneration of motor neurons, resulting in severe muscle weakness. In 60-70 percent 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. With laboratories and counseling facilities located across the U.S., Genzyme Genetics offers extensive reproductive and cancer testing services, supported by innovative technology and a commitment to quality service and trusted information. Genzyme Genetics is a business unit of Genzyme Corporation.
In addition to SMA carrier testing and prenatal diagnosis, Genzyme offers a broad carrier test menu including cystic fibrosis testing with 97 mutations, fragile X testing and 11 carrier tests for the Ashkenazi Jewish population; an industry-leading cytogenetics program; an extensive maternal serum screening program (which includes first trimester, integrated and second trimester screening); and an innovative infertility testing program.
About Genzyme
One of the world’s leading biotechnology companies, Genzyme is dedicated to making a major positive impact on the lives of people with serious diseases. Since 1981, the company has grown from a small start-up to a diversified enterprise with more than 10,000 employees in locations spanning the globe and 2007 revenues of $3.8 billion. In 2007, Genzyme was chosen to receive the National Medal of Technology, the highest honor awarded by the President of the United States for technological innovation.
With many established products and services helping patients in nearly 90 countries, Genzyme is a leader in the effort to develop and apply the most advanced technologies in the life sciences. The company’s products and services are focused on rare inherited disorders, kidney disease, orthopaedics, cancer, transplant, and diagnostic testing. Genzyme’s commitment to innovation continues today with a substantial development program focused on these fields, as well as immune disease, infectious disease, and other areas of unmet medical need.
Genzyme’s press releases and other company information are available at http://www.genzyme.com and by calling Genzyme’s investor information line at 1-800-905-4369 within the United States or 1-678-999-4572 outside the United States.
CONTACT: Media, Sarah Millerick, +1-617-768-6438, or Investors, Leah
Rosenberger, +1-617-768-6602, both of Genzyme Corporation
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