We evaluate affected individuals with cancers who are suspected to have familial/genetic predisposition for cancer, such as individuals with early onset tumors (e.g. breast cancer in females less than 50 years of age), multiple tumors, family history of tumors, or other tumors that are known to be caused largely by genetic defects, such as retinoblastoma and medullary thyroid carcinoma. We also see healthy people who do not have cancer, but have family history of tumors. During the genetic evaluation, detailed personal and family histories are obtained. Cancer gene panels are performed when indicated, genetic test results are interpreted, and genetic counseling is provided.
Many cardiovascular diseases encountered in adults and pediatrics can be caused by genetic defects that can be inherited. Examples include variable congenital heart diseases, different cardiomyopathies, rhythm abnormalities such as prolonged QT syndromes and Brugada syndrome, and familial hyperlipidemias. In our genetics clinics we evaluate patients, request the needed genetic tests, and provide genetic counseling.
Many neurological diseases seen in pediatrics and adults can be caused by genetic defects. Examples include variable types of epilepsies, hereditary neuropathies, muscular dystrophies, and early-onset strokes. Variable genetic and metabolic tests are available to help in reaching the genetic diagnosis which can provide more information about the disease and its complications and inheritance, and guide in establishing the management plan.
Large number of pediatric conditions can benefit from genetic evaluation. Some of these conditions are:
Other services include: