SOPHiA GENETICS
21 Case Studies
A SOPHiA GENETICS Case Study
Vitrolife Group, a provider of genetic testing services, was facing challenges with its high-volume carrier screening operations. Their existing model, which relied on next-generation sequencing (NGS) paired with numerous complementary tests, was difficult to sustain and lacked the ability to effectively detect complex variants. This led them to seek a more efficient and robust solution from the vendor SOPHiA GENETICS, adopting their Enhanced Clinical Exome Solution.
By implementing the SOPHiA DDM™ Enhanced Clinical Exome Solution from SOPHiA GENETICS, Vitrolife Group achieved significant improvements. The solution provided a more sensitive test with enhanced CNV and complex variant analysis, which helped reduce residual risk. Operationally, the workflow was simplified, leading to reduced hands-on time, faster turnaround times, and fewer instances of retesting and resampling. This allowed the lab to consolidate its testing, bringing all data into a single platform for reporting and re-analysis.