Alta DiagnoTech's human SMN1/DMD/FMR1 mutation detection kit represents a major advancement in molecular diagnostics. This innovative multiplex PCR kit is designed to detect the most common pathogenic mutations associated with three serious and common genetic diseases in a single, efficient reaction:
- Spinal Muscular Atrophy (SMA): Caused by a homozygous deletion of exon 7 in the SMN1 gene.
- Duchenne Muscular Dystrophy (DMD): Often caused by large deletions in the dystrophin (DMD) gene, particularly in the exon 45-55 hotspot region.
- Fragile X Syndrome (FXS): Caused by an expansion of CGG repeats in the 5' UTR of the FMR1 gene.
Key Features & Benefits
- Multiplexed Efficiency: Simultaneously detects deletions and 11 point mutations in the SMN1 gene, deletions or duplications among any one of the 79 exons and 13 point mutations in the DMD gene, and CGG repeats (premutation or full mutation) in the FMR1 gene. It also provides information of SMN2 gene copy number.
- High Specificity & Sensitivity: Optimized primer sets and master mix ensure accurate amplification and precise detection of mutations, minimizing false positives and negatives.
- Robust & Reproducible Performance: The kit has been rigorously validated to consistently detect genomic DNA samples extracted from peripheral blood or oral swabs.
- Streamlined Workflow: The simplified PCR protocol is compatible with mainstream thermal cyclers, significantly reducing operational complexity and training requirements.
This kit is intended for research use only (RUO) and is designed for use by trained laboratory personnel. For complete information, including detailed protocols, sample data, validation reports, and exact specifications, please download our comprehensive product brochure.
