We are excited to share our latest data and innovations with you during this year’s Scientific Poster sessions. Poster information and presentation times are provided below. Posters will be added to this page following their live presentations.
G16. A Rare Single Nucleotide Variant Causing a False-negative HTT CAG Repeat Expansion Result in the Evaluation of a Patient for Huntington Disease
Category: Genetics
Time: Tuesday, November 17th from 1:00pm – 2:00pm Eastern
Presenter: Farah El-Sharkawy Navarro, MD
3rd year Resident in Anatomic and Clinical Pathology at the Hospital of the University of Pennsylvania.
Summary:
- Huntington’s Disease (HD) is an autosomal dominant, neurodegenerative disease resulting from the expansion of a CAG trinucleotide repeat tract in exon 1 of HTT.
- In this case study, a patient with a high clinical suspicion of HD and initially normal HTT CAG testing, is confirmed to have the pathogenic HTT repeat upon further testing.
- The failure of the first assay to amplify the expanded repeat allele is likely explained by the SNV interfering with primer annealing resulting in amplification of only the normal allele.
- The design of the AmplideX® PCR/CE HTT Kit* avoids common and rare polymorphisms that are known to interfere with HTT
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G18. A Single-Assay Diagnostic Workflow for Genotyping and Phasing SNPs with Repeat Expansions for Allele-Selective Therapy in Huntington disease
Category: Genetics
Time: Tuesday, November 17th from 1:00pm – 2:00pm Eastern
Presenter: Sarah Statt, PhD
Senior Scientist, Asuragen
Summary:
- Determination of HTT single nucleotide polymorphism (SNP) haplotypes in Huntington Disease (HD) can personalize the use of promising allele-selective gene-silencing therapies that target mutant transcripts and preserve wild-type allele expression.
- Asuragen has developed a streamlined, prototype reverse transcription polymerase chain reaction (RT-PCR) assay using an in vitro diagnostic device-ready capillary electrophoresis platform that phases SNPs with mutant CAG-expanded HTT
- In this poster, we describe an accurate, unified PCR-based workflow on a CE platform using automated genotyping capabilities with potential to expedite patient selection and improve the efficiency of clinical trials.
- The AmplideX HTT SNP/Repeat Phasing Assay** also has implications for diagnostics, including companion diagnostic kits, for other allele-selective, repeat expansion therapies.
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G27. Two-site Evaluation of a Rapid and Simple CFTR PCR/CE Assay and Software Targeting Mutations across Diverse Ethnic Groups
Category: Genetics
Time: Thursday, November 19th from 1:00pm – 2:00pm Eastern
Presenter: Stela Filipovic-Sadic
Senior Scientist, Asuragen
Summary:
- Cystic Fibrosis (CF) is caused by mutations in both copies of the CFTR gene, and affects ~1 in 3000-4000 US births; more than 2000 CFTR variants have been identified, with variable frequency within different population groups.
- We developed and evaluated an AmplideX PCR/CE CFTR prototype assay that covers 93% variants from the diverse US population, including all targeted mutations recommended by ACMG/ACOG guidelines.
- The prototype AmplideX PCR/CE CFTR assay has a rapid workflow, requiring only five hours from sample-to-answer with the flexibility to support high-throughput screening or lower-volume diagnostic applications.
- We observed 100% genotype agreement to reference results from 73 residual blood samples at two labs, including SNPs, INDELs, CNVs, and the IVS8 poly-T/ TG modifier.
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G29. Proof-Of-Concept for Single-Platform Trio Carrier Screening of FMR1, SMN1/2, and CFTR Variants Using PCR and Capillary Electrophoresis with Consolidated Workflows
Category: Genetics
Time: Thursday, November 19th from 1:00pm – 2:00pm Eastern
Presenter: Walairat Laosinchai-Wolf, PhD
Scientist, Asuragen
Summary:
- Carrier screening for fragile X syndrome, cystic fibrosis and spinal muscular atrophy often requires distinct molecular diagnostic methods and analysis platforms for each gene.
- We demonstrated the feasibility of co-injecting PCR products from AmplideX® FMR1+SMN1/2 Plus and CFTR prototype+SMN1/2 Plus kits using existing PCR workflows and harmonized CE injection conditions.
- For FMR1+SMN1/2 Plus co-injection, >95% genotype concordance was observed in both assays with stand-alone injections using 3500 and 3730 CE instruments.
- For CFTR+SMN1/2 Plus co-injection, >97% genotype concordance was observed in both assays with stand-alone injections using the 3500 CE instrument.
View the full poster
Contact Us
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* For Research Use Only. Not for use in diagnostic procedures.
** Product in development. Specifications not finalized.
