From a single blood sample, we can use genomic sequencing to sort through a child’s entire genetic makeup and screen for thousands of rare genetic diseases in a single test, enabling us to rapidly pinpoint the root causes of a puzzling disorder and facilitate medical decision making.
Genetic diseases are the leading cause of death among infants hospitalized in intensive care, affecting an estimated four percent of newborns in North America. Our team is focused on streamlining the genomic sequencing process to deliver testing, analysis and interpretation of life-threatening genetic variations in as little as 4 days for newborns and children who are enrolled in one of our multi-center clinical studies.
The human genome in each individual carries the essential information our bodies need to develop and function properly. In this sense, it is the blueprint for human life. Genetic disease results when this blueprint becomes corrupted at the cellular level. Brain tumors are one manifestation of genetic mutations that our researchers are working to identify for early intervention.
Neurological disorders can be caused both by inherited and random gene variations. Often, the first sign of a disorder in a newborn is unexplained seizures. Identifying the cause of neurological disorders and early intervention are key to reducing the devastating brain damage that can occur.
Each step in our diagnostic workflow is engineered to reduce the time and cost of delivering genomic testing results and improve care of acutely ill infants and children.