Recently, Professor Xiangdong Kong's team from The First Affiliated Hospital of Zhengzhou University published an important research finding in the prestigious journal Orphanet Journal of Rare Diseases. This study provides a comprehensive gene analysis of 680 suspected SMA (Spinal Muscular Atrophy) families, marking it as the largest SMA genetic diagnostic study globally. The findings provide crucial insights for the diagnosis and treatment of this rare disease.
The research team has also developed a complete genetic diagnostic workflow, which integrates multiple technologies including MLPA, digital PCR, and sequencing. This comprehensive approach allows for a thorough assessment of the genetic status of patients. Notably, this multi-technology strategy significantly enhances the accuracy and comprehensiveness of the diagnosis, particularly in complex cases.
1. Largest Cohort Study
- First systematic gene analysis of 680 Chinese SMA families
- Identification of several new pathogenic gene mutations
- Establishment of a complete genetic diagnostic workflow
2. Discovery of Multiple Gene Coexistence Phenomenon
- In addition to the SMN1 gene, pathogenic mutations were found in IGHMBP2, SCO2, and NEB genes
- Expanded the genetic understanding of SMA and provided new perspectives for clinical diagnosis
3. Innovative Application of Digital PCR Technology
- First systematic validation of the accuracy of digital PCR in SMA diagnosis
- Successfully detected and corrected false-positive results from MLPA testing
Additionally, the team previously used single-cell direct amplification digital PCR technology for screening SMA (2+0) carriers in sperm cells, demonstrating the immense application value of digital PCR in SMA detection and genetic screening.
These groundbreaking research results are based on Turtle Technology’s digital PCR platform.
Turtle Technology has successfully developed an SMA (SMN1 & SMN2) detection kit based on digital PCR technology, enabling highly accurate SMA detection and screening to support genetic reproductive health.
SMA Detection Kit (Digital PCR Method)
About Turtle Technology
Turtle Technology is committed to leading the life sciences and molecular diagnostics into the digital era. Having been approved as the National Demonstration Center for Genetic Testing Technology and obtaining the first Digital PCR Metrological Evaluation Certificate, we have introduced a variety of digital PCR systems. This marks a comprehensive technological innovation across the entire industrial chain, including genetic testing instruments, chip consumables, Ultra-Multiplex technology, and ultra-high specificity polymerase.
