The CLARITAS

Clinical Experience

Family Experience / Research Experience

 

Claritas in the clinic offers:

Find Answers Quickly

Innovative tests and technology

Coordination of care after diagnostic results

Research Opportunities for the Patient

Underlying exome data transitioned to research use

Other topics in this section:

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

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.

boston children's hospital

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.