ACMG 20

ACMG 2020 | Virtual Meeting

The American College of Medical Genetics and Genomics (ACMG) Annual Meeting brings researchers and practitioners from around the world together to discuss the latest advances in the field of human genetics. As more information is uncovered about the genetic underpinnings of disease, the need for sensitive, accurate, and robust testing solutions for these targets continues to grow.

In response to the COVID-19 pandemic, this year’s meeting has moved online for the safety of all attendees and their families. Scientific posters, exhibit theaters, and educational sessions have all moved to a virtual format. More information on the 2020 ACMG Digital Edition can be found here.

Asuragen will be moving its posters and exhibit theater presentation to a virtual format to support the online ACMG annual meeting. Learn more about our latest developments and innovative testing solutions via the links below.

 

Scientific Posters & Video Presentations

The ACMG Digital Edition offers its Scientific Posters and associated Video Presentations through the ACMG Academy Portal.

Poster 272: 
Analytical and Clinical Validation of a PCR/CE Assay System for the Diagnosis of Fragile X Syndrome and Carrier Screening
Presenting Author: Connor Parker 

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Key Takeaways:

Poster 437:
Verification of a Single-tube PCR/CE Kit for SMN1/2 Copy Number and Variants Associated with Gene Duplication and SMA Disease Severity
Presenting Author: Kevin Kelnar

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Key Takeaways:

Poster 646:
Multisite Evaluation of a Single-tube SMN1/2 PCR/CE Assay System that Assesses Copy Number and Expanded Content for Spinal Muscular Atrophy
Presenting Author: Huiping Zhu, PhD

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Key Takeaways:

 

Poster 754:
A Multiplex PCR/CE CFTR Prototype Assay and Software Targets Mutations Including Poly-T/TG and Addresses >90% Allele Frequency in US Population
Presenting Author: Brad Hall, PhD

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Key Takeaways:

 

Exhibit Theater:

Looking Beyond Copy Number: Broad SMN1 and SMN2 profiling in under four hours with the AmplideX® PCR/CE SMN1/2 Plus Kit (RUO)

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Spinal muscular atrophy (SMA) is a devastating neurodevelopmental illness caused by a loss of SMN1 copies with disease severity determined by the number of SMN2 copies. Studies indicate that detecting the presence of an SMN2 disease modifier variant may impact SMA prognosis. Additionally, the detection of SMN1 gene duplication variants associated with silent carrier status may help provide a more accurate residual risk estimate for being a carrier for the disease.

Watch our exhibit theater to learn how the new AmplideX® PCR/CE SMN1/2 Plus Kit (RUO) provides SMN1 and SMN2 copy number, silent carrier, and disease modifier information all from just a single PCR reaction in less than four hours.

Presented by:
John Milligan, PhD
Scientist II, Asuragen

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