Genetic Services

Center for Human Genetics

Our genetic make-up is responsible for many of the physical characteristics we are born with,including eye, hair and skin color. Genes will also determine how we are able to metabolize certain nutrients and many of the other characteristics we are destined to have as adults, such as height, handedness and early baldness, for example. Although there is still much we don’t know about inherited diseases, we do know that genetics are also responsible for many serious genetic disorders, including genetic birth defects,intellectual disability, cleft lip and palate, developmental abnormalities and neurologic disorders.

The University Hospitals Center for Human Genetics specializes in evaluation, diagnosis, treatment and counseling for individuals of all ages with genetic and metabolic disorders.

The center, an integral part of the Department of Genetics and Genome Sciences of the School of Medicine, is a critical link between clinicians of University Hospitals and researchers of Case Western Reserve University. Together, a team of experts that includes medical geneticists, biochemical geneticists, clinical laboratory geneticists, genetic counselors and research human geneticists serve patients with a variety of conditions. Examples include children with developmental abnormalities and metabolic derangements, pregnant women who have an abnormality detected on prenatal testing and adults with early onset cancer. Some genetic diseases are not yet treatable; therefore, we ensure that patients and their family are carefully educated about prognosis, complications that may occur and the best therapy currently available.

This team of geneticists is supported by state-of-the-art technology in the center’s laboratories that focus on clinical cytogenetics, molecular and biochemical diagnostics and prenatal screening.

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