Medical genetics and neurodevelopmental pediatrics

Genetic specialists at Peyton Manning Children’s Hospital provide genetic testing and counseling for children and adults with genetic conditions.

Child getting care from a genetic specialist at Peyton Manning Children’s Hospital in Indianapolis.

Medical genetics at Peyton Manning Children’s Hospital

Board-certified pediatric genetic doctors and certified genetic counselors at Peyton Manning Children’s Hospital in Indianapolis have the expertise to diagnose even the most rare genetic conditions. You might choose to explore genetic testing, seek a second opinion or receive a recommendation for genetic testing from your child’s doctor. 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 treatment options. Our goal is to provide you with information so that you can make a decision that is right for your family.

Genetic testing and counseling for children and adults

At Peyton Manning Children’s Hospital, 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
  • Cystic fibrosis
  • Developmental delays
  • Down syndrome
  • Hearing loss
  • Intellectual disabilities
  • Metabolic disorders
  • Mitochondrial disorders
  • Neurofibromatosis
  • Single gene disorders
  • Skeletal dysplasia
  • Other rare genetic disorders

Each appointment starts with a conversation. Tell us your concerns and ask us your questions – big and small. If your child is diagnosed with a genetic condition, we work with you to create a care plan for your child. And, we connect you with the right pediatric specialists at Peyton Manning Children’s Hospital.

Specialized clinics for genetic disorders

  • Bone dysplasia clinic

    At Peyton Manning Children’s Hospital, we have a dedicated bone dysplasia clinic. Our team of geneticists and certified genetic counselors work together to provide comprehensive care for children and their families. We specialize in the diagnosis, evaluation and treatment of skeletal dysplasias. Conditions that are commonly evaluated in this clinic include achondroplasia, osteogenesis imperfecta and many other skeletal dysplasias. Our goal is to provide the highest quality of care for each child and family.

  • Connective tissue disorders clinic

    Children with connective tissue disorders need special care from doctors and care teams with expertise in these types of conditions. Geneticists at Peyton Manning Children’s Hospital provide diagnostics (genetic testing) and comprehensive care for children and adults with connective tissue disorders, such as Marfan syndrome, Loeys Dietz syndrome, Ehlers-Danlos syndrome, and hypermobility syndromes.

  • Down syndrome clinic

    Specialists at the Down Syndrome Clinic at Peyton Manning Children’s Hospital diagnose and treat children with Down syndrome. If your child has already been diagnosed, they can be referred to our program for care. At our clinic, your child and family will be connected to:

    • Assessments for your child’s development
    • Genetic testing options for parents
    • Pediatric specialists
    • Personalized care plans

    Here, your child and family are connected to a wide range of specialties. Because children with Down syndrome often need care from multiple specialists, your child's care team may include specialists in cardiology, ENT (ear, nose and throat), adolescent medicine, physical therapy, speech therapy, occupational therapy, audiology, nutrition, and more. To help make getting the care your child needs easier, we coordinate appointments with your child’s specialists on the same day in our clinic.

  • Neurodevelopmental clinic

    Geneticists at Peyton Manning Children’s Hospital provide follow-up care for infants who were born before 34 weeks and have been in the NICU. We specialize in the diagnosis of developmental delay, congenital malformations and neuro-dysfunctional conditions. Our care team includes a medical geneticist, neonatologist, pediatric rehabilitation specialists and others. Your child’s geneticist takes the time to explain your child’s diagnosis and what to expect. We also connect your child and family with other pediatric specialties at Peyton Manning Children’s Hospital, including nutritional services and speech pathology. Our goal is to provide comprehensive follow-up care for your baby once they leave the NICU.

Documents required for scheduling

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

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

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, ask about any missing records or get our fax number and email to send any records.

Medical genetics and neurodevelopmental pediatrics