Applying Geneyx for high-throughput diagnostic settings
Implementation of Geneyx Analysis allowed customized gene panels with automatic reporting capabilities to easily accommodate for their large sample workflows. Coupled with this workflow automation, was the requirement to have customized reports. The Geneyx team was able to provide their customization requests to render reports using dynamic and static information
Identifying multi-nucleotide variants associated with congenital hypotonia and global developmental delay
WGS identified a likely pathogenic, de novo variant in POLR2A, which has a strong association with the phenotype displayed by the individual. The variant was adjacent to a polymorphism variant that was inherited from one of the parents, and this caused their in-house pipeline to mis-identify it as an inherited MNV in the exome sequencing analysis. The WGS findings led to a positive finding that could be presented to the patient.
Identifying a unique novel genetic event for juvenile Parkinson
With their current platform, they achieve a diagnostic yield of approximately 50%, and for the remaining undiagnosed cases, they choose to implement Geneyx Analysis. One complex case they encountered was a large family presenting with early onset Parkinson’s disease (Juvenile Parkinson), which affected several siblings born to closely related parents. The team had sent 10 samples for exome sequencing, which was the standard and most comprehensive genetic test available for clinical diagnostics. However, the results from exome sequencing were inconclusive, so they implemented whole genome sequencing on a subset of the family and analyzed the data with Geneyx.
Identifying novel mutations responsible for colon cancer predisposition
Prof Revital Kariv, M.D., and her team diagnose and treat patients with colon cancer. In many cases, they identify families with a clear predisposition to develop polyposis and thereafter colon cancer quite early in their lives, implying a strong inherited genetic background for the trait.