When you or your child have a genetic condition, you have questions about what the best care is and how to achieve the brightest future. At WVU Medicine Children’s, we give you answers. Our genetics team specializes in uncovering birth defects, inborn error of metabolism, and other health conditions that are inherited through genes.
Whether dealing with a known condition or needing genetic testing, our team delivers the guidance, support, and expertise you need. The Genetics and Counseling Center brings together board-certified geneticists and a nurse practitioner who advocate for you and your child. Other providers who may be part of your child’s care team include our metabolic dietician and social workers.
Conditions We Treat
Inherited disorders can take many forms. They may be caused by gene or chromosome abnormalities. Certain birth defects can also be inherited. Inherited metabolic issues, also called inborn errors of metabolism or IEMs, are some of the most common genetic conditions in children.
WVU Medicine Children’s Genetics and Counseling Center tests for a wide range of inherited disorders. These include:
- Congenital heart disease
- Cystic fibrosis
- Developmental delays
- Down syndrome
- Epilepsy and seizure disorders
- Familial cancers
- Fragile X syndrome
- Metabolic diseases
- Mitochondrial diseases
- Rett syndrome
- Sickle cell anemia
- Tay-Sachs disease
- Turner syndrome
Treatments and Services
Whether you have a child with an inherited disorder, or you need information about genetic diseases, our team can help. We offer testing, support, and counseling for children, families, and individuals who need information about diseases that run in families. We also help couples who are planning a family and have concerns about fertility or the recurrence risks of certain inherited diseases.
Genetic testing can confirm a disease diagnosis and reduce a sense of uncertainty. The results can also help guide your decisions about planning a family or caring for your child as he or she grows. However, it’s important to keep in mind that genetic testing also comes with risks. The results may not be what you’d hoped and may cause emotional stress for both you and your family. We review each case to determine what testing is appropriate and work with your insurance to try to get prior authorization for it.
Genetic counseling helps you evaluate and understand your family’s risk of an inherited medical condition. Counseling offers you information about how genetic conditions might affect your child or your family.
- Coordination with pediatric specialists
- Education and support for genetic disorders
- Family planning for people with inherited disorders
- Genetic health risk assessments
- Guidance about the pros and cons of genetic testing
- Interpretations of genetic test results