Specialized Care for Pediatric Genetics
Specialists in Genetic Evaluation, Testing and Counseling
The field of genetics is concerned with genes, heredity, and variation within our DNA. At Our Lady of the Lake Physician Group, our Genetic Services specialist works with the molecular structure and function of genes, gene behavior, patterns of inheritance from parent to child, gene distribution, variation and change in populations.
Inside the body’s cells are tiny structures called chromosomes, which are made up of DNA. Along each chromosome are specific segments of DNA called genes. Our genes are the blueprints for our bodies, telling our bodies how to work. Each gene contains different information about the body’s traits and functions. Some of our genes are responsible for our physical traits, such as eye color and height. In addition, our genes play a role in our health and predisposition to disease. Our Lady of the Lake Genetic Services provides genetic evaluation, testing and counseling for patients and families with a wide variety of concerns.
Common reasons for patients and families to be evaluated by Genetic Services include personal or family history of the following:
- Hereditary conditions, such as cystic fibrosis and muscular dystrophy
- Metabolic disorders, such as phenylketonuria
- Hemoglobin disorders, such as sickle cell disease and thalassemia
- Tissue disorders, such as Marfan syndrome and neurofibromatosis
- Birth defects, such as cleft lip/palate and limb deformities
- Mental retardation, developmental delay, or autism
- Chromosome abnormalities, such as Down syndrome
- Multiple miscarriages
- Early-onset of specific cancers, including breast, ovarian, and colon cancers
- Adult-onset genetic conditions, such as Huntington disease