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    Please see our seasonal visitor guidelines effective 10/29/2024

    Clinical genetics

    Genetic specialists at Dell Children’s provide genetic testing and counseling for families of children with rare genetic conditions.

    Mom holding baby at doctors visit.

    Pediatric clinical genetics at Dell Children's

    Board-certified pediatric medical genetic doctors and genetic counselors at Dell Children’s might be part of your child’s care team. You might choose to explore genetic testing, seek a second opinion or receive a recommendation from your child’s doctor when genetic testing is beneficial to your child’s care plan. When your child has a known or suspected genetic condition, genetic specialists take a detailed family and medical history and can recommend genetic testing. Then, we provide an evaluation and can make a more informed diagnosis. Your geneticist takes the time to explain your child’s genetic condition and may make recommendations on treatments.

    Genetic testing and counseling

    At Dell Children’s, our medical geneticists can recommend genetic testing and provide counseling for conditions such as:

    • Autism spectrum disorder
    • Chromosomal abnormalities
    • Congenital birth abnormalities (present at birth)
    • Congenital heart defects
    • Developmental delays
    • Hearing loss
    • Intellectual disabilities
    • Neurofibromatosis
    • Single gene disorders
    • Skeletal dysplasia
    • Other rare genetic disorders

    Pediatric medical geneticists and care teams at Dell Children’s start by listening. We will explore a full and detailed family and medical history and may meet with you and your child’s doctor to gain more information. Additional testing and evaluation may be recommended. Your specialist then takes the time to explain the diagnosis fully. Your genetic counselor can also counsel your family about what to expect in the future, inheritance of genetic conditions and the likelihood of a baby in a future pregnancy having the same condition.

    Documents required for scheduling

    Before scheduling your child’s first appointment, we work with you and your child’s doctor to gather their previous medical records and other documents. The following documents are required for scheduling the first appointment:

    • Hospital birth records or NICU discharge summary
    • Recent well-child visit or specialist visit summary outlining a need for genetic counseling
    • Growth charts with head circumference
    • Any specialist consultation notes
    • Full and individual evaluation, or individualized education program from your child’s school if they are school-aged and require learning support
    • Previous genetic testing results, if available

    Our team will request these records before scheduling and may ask the parent or legal guardian to sign a release of medical health information form to help us gather these records for you. If you have any of the required medical records, you can email, fax or hand deliver them to our office. Once our team has all of the required records, we can schedule your child’s appointment.

    Please call our office to schedule an appointment, check on the status of a referral, to ask about any missing records, or to get our fax number and email to send any records.