BioDiscovery Resources

BioDiscovery Webinars

Genome sequencing reveals cause of multi-generational split hand/split foot with long bone deficiency.   


Raymond C. Caylor, Ph.D., FACMG

Assistant Director, Molecular Diagnostic Laboratory at Greenwood Genetic Center

Wed, Sept 15th, 10:00-10:30 AM PST

A multi-generational family with split hand/split foot with long bone deficiency has been refractory to diagnosis at our center 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.

*We hope you will join us live but a recording of this presentation will also be made available to accommodate those in other time zones.

Wednesday, Sept 15th, 10:00-10:30 AM PST