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Medical Second Opinion

An accurate medical diagnosis, especially informed by genetic testing, brings action as well as closure. It lets you know what ails you or your child, provides guidance for treatment and/or a cure and allows you to work toward specific goals to improve your health. Sometimes, though, a diagnosis remains elusive despite many doctors’ visits, inconclusive tests and ineffective therapies.

This frustrating journey, or “Diagnostic Odyssey,” often leads to a situation where a medical condition acts and looks like it is genetically influenced yet genetic testing—from single gene to panel assays—fails to yield a definitive diagnosis.

At NorthShore, our Center for Medical Genetics provides second opinion consultation services to adult as well as pediatric patients with suspected but unidentified genetic disorders. Taking advantage of state-of-the-art next generation sequencing technology, we can perform whole exome sequencing. This latest advancement in genetic testing allows us to look at many more genetic variants than ever before to identify mutations that may be causing the suspected disease or condition and provide an accurate diagnosis.

The faster we can help determine the cause and type of disease, the sooner you or your child can receive appropriate treatment and care.