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news.Genzyme Genetics, a business unit of Genzyme, has launched population carrier and prenatal diagnostic testing for spinal muscular atrophy, the most common inherited cause of infant mortality.
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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 spinal muscular atrophy (SMA). The Genzyme’s SMA test offers results in approximately seven to 11 days and is expected to have an approximately 94% detection rate of carriers overall and approximately the same detection rate for the most common and severe types of SMA in affected fetuses.
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. The rights to perform SMN1 testing are provided under license from Athena Diagnostics, part of Thermo Fisher Scientific.
Stirling Puck, national medical director of Genzyme Genetics, said: “Carriers of SMA have no symptoms of the disease and rarely have a family history of SMA. Therefore, carrier screening for this disease should be widely available to ensure people are aware of their chances of having a child with SMA.”