Identifying genetic conditions and providing genetic risk assessments
The genetics team at Baylor Scott & White McLane Children's in Temple helps identify and treat children with disorders caused by an alteration or "mutation" in a gene or a chromosome abnormality.
A pediatric medical geneticist is a physician who specializes in evaluating and diagnosing genetic conditions. The medical geneticist can help determine if there is a genetic basis for the health conditions that affect your child and help to coordinate diagnostic testing and care for the family.
Some reasons a child might see a geneticist include a family history of genetic conditions, physical birth defects, autism, or developmental delays. We also offer preconception and prenatal counseling for genetic concerns.
Schedule an appointment with a pediatric geneticist
Conditions we evaluate
Many referrals to our genetics clinic in Central Texas are for babies born with physical birth defects or children with developmental delays and/or unusual physical features. Alternatively, the child or the family may have a known or suspected genetic condition.
- Family history of a genetic condition (for example, cystic fibrosis or congenital heart disease)
- Known or suspected genetic syndrome
- Chromosomal disorders
- Birth defects
- Autism or pervasive developmental delay
- Hereditary cancer syndromes
Your visit with a geneticist
Our Central Texas geneticists use family history, physical examination, and laboratory tests (for example, chromosome analysis or DNA studies) to provide a comprehensive genetic evaluation for the child with a known or suspected genetic condition.
During your evaluation, the genetics team strives to answer three questions:
What is the diagnosis?
Giving a name to the condition leads to a better understanding of a child’s needs and what to expect in the future. Clear communication with parents about the diagnosis and the genetic cause of a particular genetic disorder is essential.
What is the prognosis?
Making an accurate diagnosis of a genetic condition often leads to information about an affected child's prognosis (what will happen in the future). The geneticist will discuss treatment options and available interventions for particular genetic conditions. A child with a genetic disorder may need to see several different medical specialists. Our genetics team will help to coordinate care.
What does this mean for the family?
A "recurrence risk" means the risk (or odds) that a subsequent child or other members of the family will be affected by a genetic condition. The genetics team helps families affected by a genetic diagnosis because genetic disorders concern the affected child and may have implications for the entire family. A family-based approach to genetic evaluation is essential.