SMN Exon Detection Kit
Spinal muscular atrophy (SMA) is a commautosomal recessive neuromuscular disease characterized by progressive, symmetrical muscle weakness and muscle atrophy of the body trunk and proximal skeletal muscles, which is caused by degeneration of anterior horn motor neurons. It's the top inherited disease that causes death in infants and young children.
Incidence is about 1/6,000 to 1/10,000. The carrier ratio of the disease can be as high as 1/30 to 1/50.
Features
■ Accurate:
Detect the copy number variations of SMN1 & SMN2, accurately distinguish normal
people, SMA carriers and patients.
■ Informative：
Detect copy number variations of SMN1 & SMN2 as well as common pathological SNPs.
■ Easy-to-use:
Direct PCR amplification with blood card or EDTA-anticoagulated whole blood. Test can be done within a single tube, applicable for automatic and batched detection.
■ Rapid:
Receive results within 3 hours, with manual operation time less than 20 minutes.
Workflow
Testing includes
15 common pathological SNPs
Copy number of SMN1 & SMN2
Application
■ SMA carrier screening is suitable for all couples whether or not they had SMA child before
■ As an adjunct diagnosis for those SMA suspects
Sample types
Peripheral blood, blood stain, or amniotic fluid
Typical Results
Instrument
Genetic analyzer (ABI PRISM 310, 3100 Genetic Analyzer, or ABI 3130 Series, 3500 Series,3730 Series Genetic Analyzer)