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:

  • The AmplideX® Fragile X Dx and Carrier Screen Kit is the first and only genetic test for FXS and related disorders authorized by the FDA as an aid in diagnosis and for carrier screening in adults
  • The Kit demonstrates accurate, sensitive, and precise determination of genotype category for CGG repeat expansions in the FMR1 gene
  • Analytical validation studies for the test included between-site and mosaicism precision, lot-to-lot reproducibility, limit of detection, DNA input, thermal cycler and extraction equivalence, and stability among others
  • A three-site clinical validation study demonstrated >95% diagnostic accuracy for the test

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:

  • New studies suggest that SMA prognosis and carrier status may be further refined through the detection of SMN1 gene duplication and SMN2 disease modifier variants
  • The new AmplideX® PCR/CE SMN1/2 Plus Kit (RUO) evaluates exon 7 copy number of SMN1 and SMN2, variant status of gene duplication and disease modifier markers, all in one simple, rapid, and streamlined testing workflow
  • The assay demonstrates a high degree of sensitivity and specificity, showing strong concordance with alternative testing methods and compatibility with multiple DNA isolation methods
  • With all necessary reagents and controls included, as well as push-button software, the assay generates results in under four hours and requires just one hour of hands-on-time

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:

  • The single-tube, AmplideX® PCR/CE SMN1/2 Plus Kit quantifies SMN1 and SMN2 copy numbers and genotypes SMN1 gene duplication “silent carrier” (c.*3+80T>G and c.*211_*212del) and SMN2 disease modifier (SMN2 c.859G>C) variants
  • For this study, four laboratories evaluated the AmplideX PCR/CE SMN1/2 Plus Kit by testing a total of 471 samples and examining concordance of results for both copy number and gene variants
  • ≥98% agreement with reference results was observed across sites for copy number quantification and other gene variant detection
  • By marrying breadth of information with assay simplicity and rapidity, this assay may present an appealing option for laboratories considering broader profiling of SMN1 and SMN2

 

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:

  • Mutations in the CFTR gene on chromosome 7 are responsible for Cystic Fibrosis (CF), which affects 1 in 3300 births
  • Reliable detection of CF mutations informs disease diagnosis, therapy decisions, carrier screening and pre-natal testing
  • We developed a simple and rapid PCR/CE assay to genotype 63 CFTR variants, including all 23 ACMG/ACOG- recommended, to address >92% mutant prevalence in an ethnically diverse US demographic and CFTR2.org
  • Delivering results within a single day, this two-reaction assay potentially provides the flexibility to support high-throughput screening as well as lower-volume diagnostic applications

 

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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