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Pediatric Genetics

The genetic specialists at Children’s Health have extensive clinical experience with how diseases, birth defects, or other health problems are inherited through the genes.

In the Children’s Health℠ Genetics clinic, we see children up to age 19 who have a known or suspected genetic condition. Genes are the building blocks of heredity that hold DNA, the instructions for making proteins. Proteins do most of the work in cells by moving molecules to where they are needed, building structures, breaking down toxins and doing general clean up and maintenance work around the body. Sometimes there is a mutation or a change in a gene or genes. This effects the gene's instructions for making a protein. If the protein is missing or not working properly, this causes a medical condition known as a genetic disorder.

Conditions We Treat

  • Congenital anomalies
  • Chromosome deletion
  • Chromosome duplication
  • Chromosome rearrangement syndromes
  • Connective tissue disorders
  • Hearing loss
  • Parents who are related to each other
  • Positive genetic screening tests (carrier, prenatal and newborn)
  • Unexplained episodic illnesses
  • Unusual physical features with poor growth and development
  • Unexplained intellectual disability
  • Vision loss

Department Overview

Every new patient who comes to our clinic is seen by a medical geneticist and a genetic counselor. Our physicians are all certified by the American Board of Medical Genetics and have extensive clinical experience. Every genetic counselor has a master’s degree in genetic counseling and is board certified or eligible. Experienced social workers are available by request, or when the need arises.

Medical Genetics offers evaluation and testing, information about specific genetic diseases, family history analysis, and chromosomal, metabolic and DNA analysis for the diagnosis of diseases. Counselors can assist with genetic counseling and discussions of options for having children. Social workers can link the family to other medical specialists as needed, as well as community resources and support groups.

Our genetics team are experts in:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed.
  • Complex disorders, with mutations in two or more genes. Often lifestyle and environment also play a role.

Services

  • Evaluation and testing for children with known or suspected inborn errors of metabolism
  • Prenatal screening, newborn screening and carrier screening
  • Interpretation of genetic test results
  • Family history analysis and genetic counseling to discuss reproductive options as pertains to inborn errors of metabolism
  • Education about specific inborn errors of metabolism
  • Comprehensive case management with referral to medical specialists, community resources and support groups
  • Consultation regarding abnormal newborn screening and metabolic testing results

Resources

Have questions about what to expect at your appointment? Read our frequently asked questions (FAQs).

Genetic Home Reference - Information about genetic conditions, as well as helpful definitions.

Navigate Life Texas - Information about resources available to Texas families who have a child with special needs.

National Organization for Rare Diseases (NORD)  - 800-999-6973 - Support for individuals with rare diseases by advocating and funding research, education, and networking among service providers

Children's Health Financial Counseling - 214-456-8670

Meet the Care Team