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.

young girl with Down syndrome having fun with her mother

Schedule an appointment with a pediatric geneticist

Call

Call 254.724.3379

Specialist

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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.