Penn State Health Pediatric Genetics

The Division of Human Genetics, Growth and Development provide comprehensive diagnostic and counseling services to individuals and families at risk for chromosomal or genetic diseases. The clinical genetics program uses a team approach that includes two clinical geneticists, a genetic counselor; developmentalists, and an education specialist. Consultants in neurology, cardiology, orthopedics, dermatology, ophthalmology, psychology, speech and hearing, and other specialties provide a multidisciplinary approach to the evaluation and treatment of individuals and their families. We evaluate children and adults with known or suspected chromosomal/genetic disorders and can provide consultation during pregnancy as well.

Over the past several years, genetic testing has undergone many technological advances. One of the main changes in genetic analysis is the emergence of microarray technology. Microarray is also able to detect small deletions and duplications in DNA that were not previously detectable by looking at a person’s chromosomes under a microscope (what is known as a karyotype, or chromosomal analysis). Therefore, microarray has become the preferred test over standard karyotype analysis, particularly for individuals with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. If your child was seen by our division prior to 2005 and had routine karyotype analysis that did not reveal a diagnosis, we encourage you to re-contact our office to discuss the utility of microarray testing.

On December 22, 2011, Governor Tom Corbett signed the bills into law making licensure of Pennsylvania genetic counselors a reality. Present at the signing were Penn State Children's Hospital genetic counselors Maria Baker, Ph.D., F.A.C.M.G., M.S., C.G., and Susan Sell, M.S., C.G.C. Read more about the road to passing the licensure legislation.


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