Key Features and Values
REDUCED COMPLEXITY
Ease of data analysis and reporting
- One kit to identify SMA patients, carriers (including detection of variants associated with silent carriers), and refine disease prognosis – all from a single PCR reaction
- Similar workflow to AmplideX PCR/CE FMR1 kit eases implementation and training
- Assay-specific software automates results reporting and streamlines data analysis
OPTIMISED WORKFLOW
Reduces valuable operator hands-on-time and overall turnaround time
- Diagnostic and screening results are reported in less than four hours with only 60 minutes of hands-on-time
- Scalable workflow supports high sample throughput testing
- Optimised for use on widely installed CE equipment
- Fully-kitted solution sourced from a single vendor
QUALITY PERFORMANCE
Comprehensive analysis of SMN1 and SMN2 genes for the diagnosis and screening of SMA
- High resolution of SMN1/2 copy number across a broad range improves accuracy in identifying SMA patients and carriers
- Excellent concordance of copy number and variant results compared to multiple orthogonal test methods
Product Description
The AmplideX PCR/CE SMN1/2 Plus Kit (RUO) is an in vitro nucleic acid amplification kit for determination of exon 7 copy number and the genotype status of relevant variants in the SMN1 and SMN2 genes. The kit generates exon 7 copy numbers for both SMN1 and SMN2 reported as 0, 1, 2, 3, or ≥ 4 genomic copies, and variant status. These variants include SMN1 c.*3+80T>G and SMN1 c.*211_*212del, the gene duplication variants, as well as the disease modifier SMN2 c.859G>C. The kit is designed for PCR on extracted genomic DNA (gDNA) from human whole blood performed on standard laboratory-validated thermal cyclers, followed by resolution on a general laboratory-validated genetic analyser or capillary electrophoresis (CE) platform.
Scientific Description
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by loss of survival motor neuron 1 (SMN1) gene function, and is the primary genetic cause of infant death. SMA has an incidence of ~1/10,000 live births and a carrier rate of ~1/50. SMN1 exon 7 is absent in ~95% of patients with SMA, whereas normal individuals typically have two or more functional genomic SMN1 copies. SMN1 copy number is typically detected at exon 7, where a single nucleotide (c.840C) distinguishes it from the highly homologous gene SMN2. In SMN2, the single nucleotide difference relative to SMN1 in exon 7 disrupts a splice enhancer that decreases the number of exon 7-containing mRNAs to 10–20%, resulting in a significantly reduced amount of functional SMN protein. Due to complete homology with the SMN1-associated SMN protein sequence, SMN2-generated SMN protein levels offer a compensatory effect. Thus, SMN2 copy number is associated with severity of the disease, whereas SMN1 copy number is associated with molecular SMA diagnosis and carrier status. SMA carriers lack a functional SMN1 copy on a single chromosome and often have one functional SMN1 copy (1+0), though a cis carrier genotype (2+0) is also known.
