Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation of microarray and sequencing data in cytogenetics or molecular genetics labs.
Raymond C. Caylor, Ph.D., FACMG
Assistant Director, Molecular Diagnostic Laboratory at Greenwood Genetic Center
In this 30-minute case study presentation, Dr. Caylor will discuss a multi-generational family with split hand/split foot with long bone deficiency that has been refractory to diagnosis at GGC since the 1990s. Utilizing genome sequencing and Biodiscovery’s NxClinical software, we were able to provide a diagnosis for this family. In addition to highlighting the benefits of genome sequencing, this family’s diagnosis raises additional questions that are of interest for disorders with clinical variability and reduced penetrance.