Spinal muscular atrophy (SMA) is an uncommon genetic disorder. With a team of researchers and scientists well versed in SMA, our company is dedicated to developing advanced IVD products for SMA. We also provide point-of-care testing and companion diagnostic development services to facilitate rapid diagnosis and personalized therapeutics of SMA.
Overview of Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder marked by muscle weakness resulting from the deterioration of spinal motor neurons. The condition is believed to impact around 1 in 6,000 to 1 in 11,000 live births, with increased occurrence in specific population groups.
SMA stems mainly from homozygous deletions or mutations in the SMN1 gene found on chromosome 5q13. This gene produces the SMN protein, essential for the upkeep and operation of motor neurons. When the SMN protein is lost or impaired, motor neurons deteriorate, causing the muscle weakness and wasting typical of SMA. Moreover, the severity of SMA is largely inversely correlated with the copy numbers of SMN2 gene.
Genetic Testing for Spinal Muscular Atrophy
Genetic testing for spinal muscular atrophy (SMA) is essential for confirming the diagnosis, determining the specific subtype, assessing disease severity, and guiding personalized treatment strategies. Utilizing molecular diagnostic techniques such as next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and PCR technology to analyze mutations or deletions in the SMN1 gene helps confirm the diagnosis and determine an individual's carrier status.
Fig. 1 Disease mechanisms of spinal muscular atrophy (SMA). (Reed U C, Zanoteli E., 2018)
IVD Kits for Spinal Muscular Atrophy
In recent years, there have been significant advancements in molecular diagnostic technologies, leading to improved accuracy and efficiency in spinal muscular atrophy (SMA) testing. Currently, there are various SMA genetic testing kits available on the market that offer precise and reliable tools for identifying abnormalities in the SMN1 gene, thereby facilitating the effective management of SMA.
| Kits |
Applications |
Detection Technology |
| SMA Detection Kit |
Quantification of SMN1 and SMN2 gene copy numbers. |
Digital PCR |
| SMN1 Gene Testing Kit |
Quantification of SMN1 gene copy numbers. |
MLPA |
| SMN1 Gene Sequencing Kit |
Perform a comprehensive analysis of the SMN1 gene sequence to identify pathogenic mutations. |
NGS |
Our Services
At our company, we specialize in the development of IVD solutions tailored for spinal muscular atrophy (SMA). Our unwavering commitment is directed towards the creation of cutting-edge gene detection kits designed to pinpoint copy numbers and mutations within SMN1 and SMN2 genes. Through the innovation of complementary diagnostic devices, we aim to facilitate automated diagnosis and effective management of SMA.
IVD Product Development Services
Optional IVD Products
- SMN1 Gene Testing Kit
- SMN2 Gene Testing Kit
- SMN1 Gene Sequencing Kit
- PCR Primers and Probes
- DNA Extraction and PCR Reagents
- And More
To expedite prompt diagnosis and personalized therapies for spinal muscular atrophy (SMA), we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of SMA diagnostics, enabling personalized care strategies for affected individuals.
If you are interested in our services, please don't hesitate to reach out to us for further information and pricing details on the services we offer.
Reference
- Reed U C, Zanoteli E. Therapeutic advances in 5q-linked spinal muscular atrophy[J]. Arquivos de Neuro-Psiquiatria, 2018, 76(4): 265-272.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
