The CarrierMax SMN1/SMN2 Reagent Kit uses multiplex PCR amplification of genomic DNA and capillary electrophoresis to detect deletions in exon 7 of the Survival of Motor Neuron 1 (SMN1) gene that result in truncated SMN protein. In addition, the kit detects two variants associated with the silent carrier (2+0) haplotype. The results are processed with GeneMapper Software in conjunction with included CarrierMAX Software to consolidate data and simplify carrier classifications in spinal muscular atrophy (SMA) carrier screening research.
Key features of the kit include the ability to:
• Accurately and consistently detect Exon 7 copy number states of 0, 1, or ≥ 2 for both SMN1 and SMN2
• Determine if SMN1 to SMN2 Exon 7 gene conversion has occurred
• Detect haplotype variants associated with SMA silent (2+0) carrier status
• Perform fragment analysis on the Applied Biosystems 3500/3500xL Genetic Analyzer or SeqStudio Genetic Analyzer
• Analyze the results in GeneMapper Software, followed by easy reporting of sample carrier classification in the included CarrierMax Software
SMA associated with loss of SMN1 is one of the leading causes of neurodegenerative disorders and is a critical target for carrier screening in individuals planning for conception. SMA arises from the loss of SMN1 gene through genetic disruptions including point or structural mutations. The majority (95%) of SMN1 losses are due to complete deletion of the gene or a point mutation on Exon 7 that causes an SMN1 splice variant to occur and results in a less functional SMN2 transcript. In some cases, genetic recombination results in two SMN1 genes on a single chromosome and are missed as carriers (2+0) using conventional methods. The CarrierMax SMN1/SMN2 Reagent Kit offers the ability to quickly and accurately screen many samples to determine the SMN1 Exon 7 copies present in the sample along with indication of potential 2+0 carriers through haplotype assessment. How to use
The kit comes with enough reagents to run 50 samples for SMN1 carrier screening research on either the SeqStudio or Applied Biosystems 3500 genetic analyzers. The premise behind the SMN1 Exon 7 copy number determination is the use of a dual PCR based system assessing both copy number and key variants.
The optimized workflow involves preparation of high quality DNA from a sample source (e.g., whole blood), dual PCR cycling reactions (∼2 hours), and subsequent CE run (∼1 hour) and data analysis (∼10 min). Download CarrierMax Software (.zip) › SeqStudio GeneMapper files 3500/XL GeneMapper files Quality of performance
The analytical sensitivity and specificity of the assay is proven to be >99% using Coriell control standards. Accuracy was determined to be >99% in carrier classification of reference samples. Reliability of the system as determined by reproducible classifications across experiments, labs, and systems indicates the suitability of the CarrierMax SMN1/SMN2 kit for carrier screening applications such as Expanded Carrier Screening research.