Genetic Diseases

Much progress has been made in genetic disease research since the use of next generation sequencing techniques became an accessible investigative tool. There are many diseases that have been found to have a genetic component, either directly or indirectly. A disease is passed down directly when the mutation inherited occurs in the gene that is responsible for the structure or biological process whose dysfunction is responsible for the signs and symptoms of the disease. But many diseases are inherited indirectly, in that the mutation causes a predisposition toward developing a specific disease, but doesn’t cause the disease itself.

There are many autoimmune diseases that result from a genetic predisposition, particularly when a mutation occurs within the human leukocyte antigen (HLA) genes. Genetic disease research has linked several diseases to HLA mutations. Such diseases as ankylosis spondilysis, narcolepsy, and HIV result, in part, from an immune system that has been predisposed not just to malfunction, but to do so in such a way that the body ends up attacking itself. Using next generation sequencing techniques, Texas Medical Specialty, Inc. explores genetic diseases like these to more accurately inform hospitals and other medical enterprises.

If you have any questions regarding our genetic disease testing, or if you would like to discuss your testing needs, please contact our laboratory at 972-566-5761 today.