Case Study: Claritas discovers novel variant in patient suffering from seizures

Changing patient care by opening up the underlying whole exome

A patient at Boston Children’s Hospital, a young adult, had suffered from seizures for more than 16 years. The patient’s neurologist ordered Claritas’ Pediatric Neurology Exome, a test that investigated 614 genes for variants in genes related to pediatric neurology conditions. Once clinical analysis of the 614 genes was completed, Claritas transferred the underlying whole exome data, which was analyzed by researchers in the neurology department at Boston Children’s Hospital. The team investigation revealed a variant in a gene with recently-recognized clinical significance that met the criteria for clinical classification as ‘likely pathogenic’. Claritas confirmed the existence of this variant in parental samples. The BCH care team changed the treatment for the patient, removing contraindicated medications as a result. Without the partnership between the ordering providers, Claritas Genomics, and WuXi-NextCODE, this important discovery might not have been made.