Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder and the leading genetic cause of infant mortality. It is characterized by the progressive degeneration of motor neurons in the anterior horn of the spinal cord, resulting in symmetrical, proximal muscle weakness, flaccid paralysis, and atrophy. Despite the severe motor impairment, cognitive and sensory functions remain intact. Clinically, SMA is classified into types 0 through IV based on age of onset and symptom severity.
Approximately 95% of SMA cases are caused by a homozygous deletion of exon 7 in the SMN1 gene. The copy number of the SMN2 gene plays a critical role in modifying disease severity and progression. This diagnostic kit employs fluorescence quantitative PCR combined with capillary electrophoresis to accurately quantify SMN1 and SMN2 copy numbers and identify SNPs associated with the "2+0" silent carrier genotype. It provides clear differentiation between unaffected individuals, carriers, and affected patients, supporting both SMA carrier screening and research.
Exceptional Accuracy and Diagnostic Reliability
· This test kit delivers consistent, high-performance results with outstanding genotyping resolution. It precisely differentiates among healthy individuals, asymptomatic carriers (without clinical symptoms), and patients with spinal muscular atrophy (SMA), offering a robust molecular foundation for clinical diagnosis and genetic counseling.
Comprehensive and Insightful Genetic Profiling
· Designed as an all-in-one solution, the kit enables quantitative detection of both the pathogenic gene SMN1 and the disease-modifying gene SMN2. In addition, it targets key single nucleotide polymorphisms (SNPs) associated with the "2+0" silent carrier genotype. This dual-layer detection strategy significantly increases carrier screening coverage and minimizes the risk of missed diagnoses.
Streamlined Workflow and Laboratory Efficiency
· Built on the proven platform of fluorescent PCR combined with capillary electrophoresis, the assay features clear, standardized protocols optimized for ease of use. The entire process—from sample preparation to result interpretation—can be completed in approximately 4 hours, greatly improving throughput and operational efficiency in clinical laboratories.
| Species: | Human |
| Variant Types: | CNV |
| Sample Type: | blood,chorion,tissue |
| Method: | Fluorescent PCR - Capillary Electrophoresis |
| Sequencing Platform: | Applied Biosystems |
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