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Gene Sequencing

Epilepsy Myth

Myth: No medical tests can determine if a child will develop epilepsy in the future.   Truth: This is false. Epilepsy is a nervous system disorder that is seen among many children and young teens. Although epilepsy can be treated with medications, young children with epilepsy are more likely to have a neuro-developmental disorder that creates epilepsy. As such, a recently published study has shown a genetic test that can prescreen young children for epilepsy to ensure that their physicians can decide on the most effective treatments for these individuals to promote healthy brain development.

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics (NYSE: DGX), the world’s leading provider of diagnostic information services, today announced the availability of Neurome™, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations. Personalis, Inc., a leading genomics-based diagnostic laboratory, developed and performs the lab-developed test exclusively for Quest Diagnostics. Neurome is the first whole exome sequencing service available through Quest Diagnostics and its Athena Diagnostics neurology diagnostics business. Whole exome sequencing focuses on the exome, the 1-2% of the human genome that codes for proteins and where most known disease-causing genetic variants occur. As a result, it focuses on the most clinically actionable genomic regions for t...

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