AmplideX® PCR/CE TOMM40 Kit

Asuragen is the established leader in clinical research technologies for the investigation of high homology repeat disorders with proven market deployed kits for FMR1 and C9orf72 research. The AmplideX PCR/CE TOMM40 Kit (RUO) expands our portfolio of neurogenetics tests into the AD space to provide an easy-to-use, robust and reliable kit that offers single base resolution for the AT-rich region of the ‘523 polymorphism.

The assay PCR-amplifies the TOMM40 poly-T repeat region from purified genomic DNA followed by fragment sizing on an Applied Biosystems Genetic Analyzer. The size of the PCR products is converted to the number of poly-T repeats using mobility conversion factors.

Reduced Complexity | Simplified analysis of the TOMM40 gene

• First-ever kitted and distributed solution
• Easy-to-interpret results

Optimized Workflow | Streamlined, rapid and reliable workflow

• Validated protocol ensures reproducible results
• Minimal hands-on and turnaround time (Figure 1)

Quality Performance | Greater sensitivity and accuracy than currently available methods

• 1 base pair resolution for poly-T sizing ensures accurate results at key genotypic boundaries
• Reliable and accurate results every time

Figure 1. Workflow of the AmplideX PCR/CE TOMM40 Kit (RUO)

Analytical Characteristics

• Reproducible: Can be used to reliably compare research results across institutions and cohorts (Figure 2)
• Accurate: Single base pair resolution ensures accurate results at key genotypic boundaries associated with the age of onset in Late-Onset AD (LOAD) (Figure 3)
• Flexible: Compatible with a wide range of DNA input, including low amounts of DNA (Figure 4)

Figure 2. A synthetic 48mer was accurately sized 8/8 times within 1 bp (7/8 = 48 Ts; 1/8 = 47 Ts)

Figure 3. Corriell sample NG09714 accurately sized and categorized by the kit: Size 29,30 Ts; Category: L/VL (Long/Very Long)

Figure 4. Amplification of 16,29 T alleles at DNA inputs ranging from 5 ng to 100 ng: Even at the lowest input, the peaks are clearly visible above the background signal