Asuragen has launched the AmplideX PCR/CE SMN1/2 Plus Kit, which according to the company provides the most comprehensive analysis of genes associated with spinal muscular atrophy (SMA) on the market and does so in a matter of hours.
SMA is caused by mutations in the SMN1 gene, which encodes the SMN protein critical for motor neuron survival. It is an autosomal recessive disorder, meaning that for a child to develop SMA they must inherit a copy of a mutated gene from both the mother and the father.
Some people have extra copies of a second gene called SMN2, and the number of copies of this second gene often affect the course of SMA. The more copies there are, the less severe the symptoms tend to be.
The AmplideX PCR/CE SMN1/2 Plus Kit quantifies the number of copies of the SMN1 and SMN2 genes, and detects variants associated with SMN1 gene duplication. This allows the identification of “silent carriers,” as well as whether the patient may have a less severe phenotype due to SMN2 copy number.
“The identification of SMA (spinal muscular atrophy) carriers and patients, as well as the variants which affect these diagnoses, requires the use of rapid, accurate, and comprehensive molecular diagnostic tools to ensure these individuals have timely access to appropriate interventions,” Vivianna M. Van Deerlin, the director of the molecular pathology laboratory and professor of pathology and laboratory medicine at the University of Pennsylvania Perelman School of Medicine, said in a press release.
Asuragen states that its kit provides a more comprehensive analysis of SMN1 and SMN2 genes compared to other commercially available kits. Only a small amount of DNA (20 nanograms) is required for the analysis. The analysis is also said to take less time and effort than other methods, requiring less than one hour of hands-on work and a total testing time of four hours.
“The AmplideX PCR/CE SMN1/2 Plus Kit marries the speed, simplicity, and high performance my lab has come to expect from AmplideX technology with the breadth of information now being asked of us to keep pace with this dynamic clinical space,” Van Deerlin said.
With two approved therapies for SMA, the gene therapy Zolgensma and the SMN2 splicing treatment Spinraza, and others in clinical testing, global efforts to screen all newborn babies for the disease are growing. Currently, seven U.S. states — Indiana, Missouri, Minnesota, New York, Pennsylvania, Utah, and Vermont — routinely screen newborns for SMA, according to the MDA, while 16 others have either passed laws requiring such screening or are in the process of doing so.
“With the AmplideX PCR/CE SMN1/2 Plus Kit, laboratories everywhere can now quantify copy number and detect variants of significant clinical research interest with an ease and simplicity not possible via alternative methods,” said Matthew McManus, president and CEO of Asuragen.