Early diagnosis of rare genetic disorders is critical to effective care and treatment protocols. History has proven that careful research and diagnostics can unveil treatments that prevent symptoms from occurring or progressing. An early successful diagnostic test often dramatically changes a child’s disease outcome, reducing or eliminating debilitating physical and mental results of the disease. Frequently this also comes with significant financial savings to the families, the community and medical care systems.
Many children with genetic disorders have not been accurately diagnosed; in some cases these children have even been mis-diagnosed. Although children with genetic diseases can have characteristic appearances which may help physicians make a diagnosis, most genetic disorders need laboratory testing to confirm the diagnosis.
Since early diagnosis is crucial with many genetic diseases to prevent long-term effects, DDC Clinic is actively involved in prenatal and newborn screening programs to assure that affected children are identified and diagnosed as early as possible. Through the generosity of an early anonymous donor, we were able to establish a specialized molecular diagnostics laboratory to offer diagnostic tests for rare genetic disorders. We have improved the patient diagnosis rate from 22% in 2002 to 70% today.
As we deal with many rare genetic diseases, laboratory diagnostic testing is frequently challenging because standard tests may not be available. We work with research teams around the world to obtain useful biochemical information to help us develop tests for those diseases. We have developed more than 30 DNA tests; for many rare genetic diseases, we are the only place in the world to perform those DNA assays.