Looking Beyond Copy Number: Broad SMN1 and SMN2 profiling in under four hours with the AmplideX® PCR/CE SMN1/2 Plus Kit (RUO)
Spinal muscular atrophy (SMA) is a devastating neurodevelopmental illness caused by a loss of SMN1 copies with disease severity determined by the number of SMN2 copies. Studies indicate that detecting the presence of an SMN2 disease modifier variant may impact SMA prognosis. Additionally, the detection of SMN1 gene duplication variants associated with silent carrier status may help provide a more accurate residual risk estimate for being a carrier for the disease.
SMA is commonly cited as the leading genetic cause of infant death. It is a hereditary disease that results in degeneration and loss of anterior horn cells of the spinal cord and brain stem nuclei. It causes progressive weakness of the voluntary muscles connected to those nerves.
There have been many exciting new advancements in gene therapy for treating SMA, which have been driven by the need for early testing and increased testing to ensure that treatments are applied when they are most effective. The highlight of the genetics in SMA are the gene SMN1. In healthy individuals, the full length SMN1 gene is transcribed and translated into SMN protein, but in patients with SMA, there is a full deletion in exon 7 in both copies of SMN1 that leads to a complete lack of SMN protein production, which is what causes SMA. This becomes more complicated with the process of SMN2.
If there is a person suspected of having SMA, the first step is to provide SMN1 deletion testing. However, SMN1 and SMN2 gene conversion events are likely to be missed by conventional PCR methods. This is where the AmplideX® PCR/CE SMN1/2 Plus Kit (RUO) provides a familiar workflow, but with new targets: it extends the simplicity of AmplideX® technology to SMN1 and SMN2 copy number resolution and variant detection, while also including all reagents needed for both PCR and CE. It provides a complete testing solution offering comprehensive analysis of SMN1 and SMN2.
You can learn more about the benefits of the kit in Asuragen’s webinar that covers:
- Spinal Muscular Atrophy: Disease Background
- What is SMA?
- Genetics of SMA
- Testing Approaches
- AmplideX® PCR/CE SMN1/2 Plus Kit
- Test Overview
- Performance
WATCH THE WEBINAR
In this recorded webinar presentation, learn how the AmplideX® PCR/CE SMN1/2 Plus Kit (RUO) provides SMN1 and SMN2 copy number, silent carrier, and disease modifier information all from just a single PCR reaction in less than four hours.
Watch the webinar: https://www2.asuragen.com/SMN1-2PlusSpringWebinarVideo
Time: 50 minutes including Q&A