AmplideX® PCR/CE C9orf72 Kit (RUO)

Asuragen has established the market-leading technology for the reliable amplification and analysis of CGG triplet repeats in the FMR1 gene. The AmplideX PCR/CE C9orf72 Kit (RUO) is an expansion of this technology into the neurogenetics space. The kit provides clinical and pharmaceutical researchers with a reliable and reproducible method for high-resolution genotyping of hexanucleotide repeat expansions in the C9orf72 gene, which is of increasing interest in frontotemporal dementia (FTD) – the second most common form of early onset dementia after Alzheimer’s Disease – and amyotrophic lateral sclerosis (ALS).

Reduced Complexity | Analysis of the C9orf72 gene has been simplified through:

• Implementation of proprietary 2-in-1 PCR solution for amplifying GC-rich regions
• A single sourced kit consisting of all PCR reagents needed for C9orf72 repeat amplification
• Streamlined workflow with minimal hands-on time

Optimized Workflow | Valuable operator hands-on time has been significantly reduced through:

• Single PCR reaction for both sizing and screening
• Direct injection of PCR products (no PCR clean up) to Capillary Electrophoresis platforms
• Decreased need for Southern blot analysis

Quality Performance | Performing C9orf72 analysis with greater sensitivity and accuracy:

• Five-fold improvement in length of alleles sized: accurate sizing up to 145 repeats
• Detection of alleles greater than 145 repeats
• Reveal low-level mosaicism and minor alleles

Analytical characteristics of AmplideX PCR/CE C9orf72 Kit Include:

• Accurately sizes up to 145 repeats (Figure 1)
• Detects alleles >145 repeats (Figure 2)
• Resolves zygosity (Figure 3)

Figure 1. Coriell cell line ND06769: The AmplideX Kit correctly sizes a primary allele at 13 repeats and a minor allele at 44 repeats. The expanded allele is also detected in the electropherogram.

Figure 2. Coriell cell line ND06769: Alleles up to 145 repeats can be detected above background and correctly sized, alleles above 145 repeats are amplified and detected as expanded.

Figure 3. Side by side comparison of 2 Coriell cell lines: ND08619 (7,7 homozygous) and ND12102 (7,expanded heterozygous): Extension of the repeat-primed peak pattern beyond the shorter allele clearly differentiates the heterozygous sample from homozygous sample.