Pediatric Genetics Patient Care
New Patients
Please take a moment to complete the appropriate intake form prior to your appointment. Having this prepared in advance allows us to expedite the intake process and ensure you get the best care possible.
- Pediatric Intake Form
- Adult Intake Form
- Connective Tissue Disorder Intake Form
- Authorization to Disclose Health Information to SIU School of Medicine and SIU Healthcare
Who we refer:
- Children with multiple medical problems such as congenital heart disease, developmental delays, poor growth, seizures, unusual facial features, limb anomalies and hearing loss
- Children with Down syndrome, 22q11 deletions, or metabolic diseases found by newborn screening
- Adults with recurrent cancers
- Expectant mothers with fetal abnormalities
- Those with inherited disorders that can cause adult onset disease
We provide care for children and adults with a variety of medical problems, including:
- Birth defects
- Down syndrome
- Genetic syndromes
- Abnormal newborn screens
- Metabolic diseases
Services offered:
- Genetic Counseling
- Familial cancer screening
- Chromosome analysis
- Single gene sequencing
- Exome sequencing
- Chromasomal microarray
- Biochemical testing for metabolic disorders
- Sequencing of a panel of genes associated with specific symptoms
- Our genetic testing capability is growing exponentially