Meet Us at ASHG 2018

by Canon BioMedical on September 24, 2018

We will be exhibiting at this year's American Society of Human Genetics from October 17-19, 2018 in San Diego, California and look forward to meeting those attending. To learn more about our products and their applications, stop by Booth 811 any time during the exhibit, and come to meet us at the following sessions:


Wednesday, October 17, 2018, 12:30 PM - 1:45 PM
San Diego Convention Center Room 28D, Upper Level

Canon BioMedical Exhibitor Education Event: Introducing NEXTGENPCR

Until now PCR instruments have relied on Peltier elements to heat and cool an aluminum or silver block, accommodating 96 or 384 polypropylene tubes, holding PCR-mixes. Using this technology PCR times, for 30-cycle, 3-temperature reactions, are usually between 50 and 150 minutes. Now, NEXTGENPCR is redefining fast. The thermocycler introduces a new way to heat and cool the samples instantly, with virtually no ramp rates, losing no time getting the samples to the desired temperature. The user can go from melting to annealing in less than 0.1 second. For a 100 base pair fragment, the total reaction time is as short as two minutes, with 700 base pairs being amplified in ten minutes. Adding NEXTGENPCR into workflows results in higher sample throughput. Using optimized applications, more than ten full plate experiments per hour become possible. Operated at capacity this would mean eighty, 384-well plates per day, resulting in more than 30,000 datapoints per day; far beyond the capabilities of common thermocyclers. During this presentation, Gert will focus on the technology behind NEXTGENPCR.

For additional information about NEXTGENPCR, check out our blog posts NEXTGENPCR - Discover How It Works and Top Ten Most Asked Questions About NEXTGENPCR.


Wednesday, October 17, 2018, 2:00 PM - 4:00 PM
Poster Session

2900F    SMN1 and SMN2 copy number assays universally perform on five different thermocyclers. Z. Kabir; Y. Machida; S. Paquerault; L. Jiang; J. Huuskonen

Introduction
Spinal muscular atrophy (SMA), an autosomal recessive disorder, causes a spectrum of muscle weakness and atrophy that affects newborns and young adults. SMA is largely caused by SMN1 gene deletion, the gene that codes for the survival motor neuron (SMN). Disease severity is modulated by the low-level expression of SMN from the 99% identical SMN2 gene. Here, we determine the assay performance of the Novallele copy number assays for SMN1 and SMN2 on five thermocyclers capable of high-resolution melting (HRM).

Methods
Using cell-line genomic DNA and genomic DNA isolated from blood with four different, commercially available DNA extraction kits, the copy number of each uncharacterized sample was determined using the Novallele copy number assays and confirmed with a comparable method, either multiplex ligation-dependent probe amplification (MLPA) or digital PCR. Using the DNA samples, the Novallele copy number assays were individually evaluated on five different, commercially available HRM-enabled thermocyclers. Reaction chemistry and DNA amount, as well as PCR and melt protocols, were uniform for all of the thermocyclers. All Novallele copy number assay data were analyzed using the Novallele HRM Analyzer. Both accuracy and repeatability studies were completed. The accuracy testing compared the copy number determined to the known copy number or the result of the comparable method, as applicable. The repeatability study was conducted on each of the five thermocyclers and comprised three replicate plates containing 48 or 96 samples depending on the thermocycler plate format allowed.

Results
Both assays correctly determined the SMN1 or SMN2 copy number of all DNA samples as compared to the commercially available technology. The results were 100% accurate for all HRM-enabled thermocyclers and DNA extraction kits tested.
We analyzed 1060 data points for the repeatability study. Four of the thermocyclers had 100% consistent results for all data points. One thermocycler had 95.4% (95% confidence interval: 89.4–100.0%) repeatability.
Four of the thermocyclers were able to provide results within one hour; the other thermocycler provided results within 90 minutes due to slower melt conditions.

Conclusions
The Novallele copy number assays can reliably determine copy number using multiple HRM-enabled thermocyclers and DNA extraction kits without changing PCR protocols or reaction chemistry.


See you in San Diego.