Canon BioMedical Develops Easier Way to Identify SMA-linked Gene Abnormalities avatar

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SMA gene identification

Canon BioMedical is offering researchers a simplified method to see if a person has gene abnormalities associated with spinal muscular atrophy.

The company’s Novallele copy number assays can determine whether the SMN1 gene has been deleted. It can also determine the number of copies of the SMN2 gene. The number is important because scientists say SMA’s severity can be linked to the number of copies of that gene.

Most SMA cases stem from the deletion of the SMN1.gene. But determining the severity of a person’s disease is a complex assessment that can also depend on the number of copies of SMN2.

Genetic testing through a blood sample is the least invasive and most accurate way to diagnose SMA. Cure SMA says a blood test can identify about 95 percent of all cases.

But sometimes other tests are necessary. One is an electromyography, or EMG, which assesses the health of muscles and the nerve cells — or motor neurons — that control them.

Another is a muscle biopsy, which must done when it is not possible to perform a genetic test or when a genetic test identifies no abnormality. A biopsy involves removing a small amount of muscle tissue, then examining it under a microscope.

To identify copy number variations of SMN1 and SMN2, researchers often need a specialized network of instruments and reagents. But these are costly, making it difficult to test a large number of samples.

Novallele copy number assays require only a thermocycler, or laboratory instrument that can magnify DNA segments. A lab technician can obtain the results in under an hour.

The method simplifies investigations of deletions and duplications of individual genes. By using high-resolution melting to analyze the genes’ fluorescence, researchers can quickly assign copy numbers to samples.

Additional information is available at Novallele’s webpage.

“Our research and development team worked really hard to make sure our new copy number assays perform consistently and reliably for our customers,” Dennis Snyder, Canon BioMedical’s senior director of global commercial operations, said in a press release. “This isn’t an easy analysis to perform, but we developed a solution that is simple, fast, and accurate. We hope our copy number assays for the SMN1 and SMN2 genes will help researchers understand spinal muscular atrophy and advance treatment for this terrible disease.”

Canon BioMedical announced its Novallele copy number assays program at the Association of Molecular Pathologists convention in Salt Lake City, Nov. 16-18.