Pediatric Genetics

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.

Dallas

214-456-2357
Fax: 214-456-2567
Ste F4200

Park Cities

469-488-7000
Fax: 469-488-7001
Ste 106

Request an Appointment with codes: Genetics

Refer a Patient with Medical Genetics

Accepted Insurance Plans

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

Our Programs

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

  • Ralph DeBerardinis, MD Pediatric Genetics Specialist
  • Garrett Gotway, MD Pediatric Genetics Specialist
  • Kosuke Izumi, MD Pediatric Genetics Specialist
  • Laura Mackay, MD Pediatric Genetics Specialist
  • Markey McNutt II, MD Pediatric Genetics Specialist
  • Angela Scheuerle, MD Pediatric Genetics Specialist
  • Luis Umana, MD Pediatric Genetics Specialist
  • Joanna Spahis, APRN, CNS Clinical Nurse Specialist - Genetics
  • Katie Baudoin, MS, CGC
    Katie Baudoin, MS, CGC Genetic Counselor
  • Charlise Chen, MC, CGC
    Charlise Chen, MC, CGC Genetic Counselor
  • Melanie Goodman, MS, CGC
    Melanie Goodman, MS, CGC Genetic Counselor
  • Callie Hornbuckle, MS, CGC
    Callie Hornbuckle, MS, CGC Genetic Counselor
  • Julianna Hudnall, MS, CGC
    Julianna Hudnall, MS, CGC Genetic Counselor
  • Kailyn Jefferson, LMSW
    Kailyn Jefferson, LMSW LMSW
  • Donnice Michel, MS, CGC
    Donnice Michel, MS, CGC Genetic Counselor
  • Sarah Montgomery, MS, CGC
    Sarah Montgomery, MS, CGC Genetic Counselor
  • Christine Quinn, MS, CGC
    Christine Quinn, MS, CGC Genetic Counselor
  • Crescenda Uhles, MS, CGC
    Crescenda Uhles, MS, CGC Genetic Counselor

Locations