Genzyme Genetics, a part of Genzyme Corporation, has announced that “it is the first national laboratory specializing in reproductive testing to provide population carrier and prenatal diagnostic testing for spinal muscular atrophy (SMA)….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.”

From the company’s press release:

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.

Genzyme Corporation was a sponsor of the 2007 FightSMA Annual Conference and is scheduled to participate in the 2008 conference next week.

To read the full press release, click here.