Genzyme Genetics Announces Launch of Carrier Testing and Prenatal Diagnosis for Spinal Muscul...( Motor Neuron Disease is Lead...),Health

Motor Neuron Disease is Leading Cause of Death for Infants

WESTBOROUGH, Mass., April 14 /PRNewswire-FirstCall/ -- Genzyme Genetics, a business unit of Genzyme Corporation (Nasdaq: GENZ), 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
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