We are using next generation sequencing to help end the diagnostic odyssey for families and physicians struggling with undiagnosed genetic diseases in children.
Uncovering Genetic Causes of Disease
More than 250 million people worldwide suffer from a Rare Genetic Disease. Rare diseases are often chronic, progressive, life-threatening, and result in a poor quality of life from birth. We believe that our tests have the power to help Patients with Rare Genetic Diseases in ways that conventional diagnostics approaches cannot. Our approach allows a single test to address thousands of genes and diseases all at once to provide Patients with a lifetime of genetic information. This new approach can help shorten the time to a diagnosis, aid in medical management of Patients, assist in family counseling, and suggest possible therapeutic interventions.
Many people with a Rare Genetic Disease go undiagnosed for a long period of time. Physicians also face the challenge of managing cases without a complete genetic picture. We believe catching rare diseases early in newborns is critical to beginning treatment and preventing mortality or lifelong debilitation. Our tests allow Physicians to reduce diagnostic delays and escalating costs by evaluating thousands of genes and diseases all at once instead of limiting testing to a single gene at a time. This genetic information can aid Physicians in more accurate diagnosis, increased access to clinical trials, and potential broadening of therapeutic window.
Despite valiant efforts by the Rare Genetic Disease community and Researchers, awareness and research dollars for Rare Genetic Diseases has often lagged other diseases. Even with all of the advances in genomic medicine, many genetic diseases still do not have an appropriate medical description and treatment remains mostly nonexistent. Researchers play a pivotal role in understanding genetic disease and their work is important in making new technologies available to Physicians and Patients. Using our genomics services, Researchers can study genetic disease to contribute to better diagnosis and treatment options.