eCase Study Videos

The most severe forms of spinal muscular atrophy (SMA) are considered to be a leading genetic cause of infant mortality. As a result, SMA is a very important disorder for carrier screening research studies. SMN1 and SMN2 are very similar in sequence: the functional difference between the two is a single nucleotide change—from a cytosine to a thymine in exon 7. This homology presents special challenges for NGS technologies commonly used in expanded carrier screening research. In this eCase study, Dr. Harris presents case examples to illustrate how the Ion Torrent™ CarrierSeq™ ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.

Download a Transcript of this eCase Study here.

Affecting approximately 5 percent of the world’s population, alpha thalassemia is the most common monogenic inherited disorder. Located in tandem, the HBA1 and HBA2 genes have identical coding sequences and this homology presents special challenges for NGS technologies commonly used in expanded carrier screening research.

In this presentation, Dr. Colin Davidson of Thermo Fisher Scientific presents case examples to illustrate how the Ion Torrent CarrierSeq ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.

Download the transcript of this eCase Study here.

In this 20-minute eCase Study you will hear first-hand how Dr. Jeff SoRelle and team, of the University of Texas Southwestern Medical Center, developed and validated a COVID-19 RT PCR assay. Dr. SoRelle shares his decision to bring this development in house, how he chose reference materials, and how he managed to scale up and provide rapid turnaround.

Download the transcript to this eCase Study here.

In this 15-minute on-demand presentation, learn how Accuplex SARS-CoV-2 Reference Materials are meeting the immediate need for validating the performance of coronavirus assays. The focus of this presentation is on the technology, the importance of early detection, and helping every lab accelerate go-live-launch.

Download the transcript to this eCase Study here.