The AMP 2021 Digital Experience

Virtual Corporate Workshop

Is Copy Number Quantification Enough? Rapid, Comprehensive Profiling of SMN1 and SMN2 is Possible with the AmplideX® PCR/CE SMN1/2 Plus Kit

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide. While SMN1 and SMN2 copy number quantification is routinely performed to screen for and diagnose SMA, evolving carrier screening, treatment, and management data suggests testing for additional alterations may be needed.

In this workshop, we review how the AmplideX® PCR/CE SMN1/2 Plus Kit (RUO) quantifies SMN1/SMN2 copy number and detects additional variants associated with silent carrier status and disease severity – all via a simple, streamlined, and scalable testing workflow providing rapid results in under four hours.

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Scientific Posters

A Deep Learning-Powered Genotyping System for C9orf72 Hexanucleotide Repeat Expansions Enables High Throughput Genetic Analysis

Presenters: Ryan Routsong, Adrian Gonzalez, Lando Ringel, Jacob Ashton, Sarah N Statt, Gary J Latham and Brian C Haynes, Department of Research and Development
Asuragen, Inc., a Bio-Techne brand, Austin, TX, USA.

• The AmplideX® PCR/CE C9orf72 Analysis Module* provides an automated workflow that is as accurate as manual operators but takes a fraction of the processing time.
• Specifically, the AmplideX PCR/CE C9orf72 Analysis Module* accurately categorized 99.6% of samples from a 260-member test cohort while generating repeat genotypes from a 96-well plate of samples in less than 10 seconds – at least 200 times faster than manual operators.
• In ongoing work, six international and domestic laboratories are evaluating the AmplideX PCR/CE C9orf72 Analysis Module*. The results from this multi-laboratory assessment can help harden its analytical models and provide independent validation of the assay.

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Verification of a Targeted PCR/CE CFTR Assay and Companion Software that Addresses 93% Mutation Prevalence across Diverse Ethnic Groups

Presenters: Connor Parker, Kevin Kelnar, Elliot Hallmark, Sarah Edelmon, Shobha Gokul, Pranesh Rao, John N Milligan and Bradley Hall
Asuragen, Inc., a Bio-Techne brand, Austin, TX, USA.

• The AmplideX PCR/CE CFTR Kit includes reagents and assay-specific software to reliably detect 67 variants covering 93% of variant alleles in the ethnically diverse US population.
• AmplideX PCR/CE Reporter software automates quality control checks, peak detection and allele classification, and provides a detailed sample genotype report.
• The assay accurately (PPA and OPA >99%) detects variants across four CE instrument platforms, and four thermal cycler models across a DNA input range of 20 to 60 ng.
• Zygosity agreement with reference methods was >99%, and overall sample level genotype provided by the AmplideX PCR/CE Reporter software was >97%.

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QuantideX® qPCR BCR-ABL IS Kit and ipsogen BCR-ABL1 Mbcr IS-MMR Kit Yield Highly Correlated Results

Presenter: Adrian Lara, Ion Beldorth, Keri Jefferson and Justin T Brown
Asuragen, Inc., a Bio-Techne brand, Austin, TX, USA.

• 31% of leukemic sample results were positive but below LOD in the ipsogen test while being positive and above LOD in the QuantideX test.
• All dually positive values yielded a linear regression with slope of 0.981 and a Pearson R correlation coefficient of 0.979, as well as a mean bias of 0.26 MR units.
• The QuantideX test yielded no false positive results and the ipsogen test yielded 10%.
• Overall percent agreement of detection across both study arms was 92.7%, but a portion of results from the ipsogen test are indistinguishable from its false positives.

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