Clinical Genetics Services
Genetics deals with biological information or DNA/genes that we pass from one family member to another. DNA/Genes influence how our bodies grow, how we look, and how we learn. Health or learning problems can result from changes (mutations) in our genetic information. Some of these medical conditions can be inherited; others are not. The knowledge of the inheritance of specific traits is important if medical, educational or family planning decisions need to be considered.
You or a family member may be referred for a genetic evaluation by your physician because of the following reasons:
- The presence of birth defects, unique physical features, significant learning problems, mental retardation, growth delays or developmental delays
- A possible inherited health problem in your family or your partner's family or a child or family member who has or may have a chromosomal abnormality or other specific DNA or biochemical genetic condition, such as Down syndrome, sickle cell anemia, cystic fibrosis or muscular dystrophy
- A close family member who has a condition that seems to run in the family, such as certain cancers, heart disease or mental illness
- A pregnancy that might be at risk for a genetic disorder based on parental age, ethnic background, an abnormal prenatal screening blood test or an abnormal ultrasound finding
- A pregnancy that may be at risk for a birth defect due to an illness in the mother (such as diabetes, viruses, high fevers) or by something the mother was exposed to (such as medications, drugs, alcohol, chemicals)
- Three or more unexplained miscarriages
We offer a team of two clinical geneticists and three genetic counselors who provide comprehensive clinical genetic services. Individuals and families present for a variety of reasons:
- To have a clinical genetic evaluation
- To learn information about the natural course of a condition caused by genetic factors
- To learn strategies for prevention of certain disorders
- To inform themselves of options for future diagnostic studies and treatment including the risks and benefits of recommended tests
- To obtain information about the risk to other family members to be affected or to have an affected child
- To discuss issues regarding prenatal diagnosis
- To be evaluated for recurrent miscarriages
- To undergo carrier testing
- To receive pre-marital and pre-conceptional counseling
- To receive interpretation of genetic test results
- To obtain information regarding resources for families
Patients are seen in the Genetics Clinic, which is held several times weekly. In addition, over 30 outreach clinics are held throughout the year for patients unable to travel to the Medical Center. These clinics are held in Hickory, Boone, North Wilkesboro, Greensboro, and Statesville, and are partially funded by the State of North Carolina.
Our Maternal Serum Screening program refers families for consultation and diagnosis to the Department of OB/GYN.