eCase Study Videos

Clinical Reference Laboratory (CRL) is one of the largest privately held clinical testing laboratories in the US. As the COVID pandemic arose last year, the lab sought to develop a patient-friendly sample collection experience based on saliva instead of nasal pharyngeal swabs. But the test needed to be just as accurate and reliable as standard SARS-CoV-2 tests.

In this on-demand eCase study, Heather Fehling and Rob Grbac of CRL review how they quickly developed a PCR-based COVID-19 saliva test and then rapidly scaled from 300 samples per day to 30,000 samples per day. They discuss how they optimized their processes with the help of Artel’s Multichannel Verification System and review lessons learned from the project.

Download the transcript that accompanies this eCase Study here.

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 15-minute, on-demand video, Dr. Joel Lefferts describes how his team at the Dartmouth-Hitchcock Medical Center were able to rapidly increase, through automation, their SARS-CoV-2 assay on the Abbott m2000. Dr. Lefferts provides practical experiences and challenges faced when developing, validating, and going live with a SARS-CoV-2 assay to facilitate patient testing.

Download the transcript to this eCase Study here.