Cook Children's offers one of the largest pediatric genetics centers in the United States, providing both clinical and metabolic genetics evaluation, testing, treatment and counseling. The doctors and medical teamwork closely with you, your child and your family to help you understand your child's specific genetic disorder and treatment plan. The team can also assist you with referrals to community resource services, should the need arise.
We offer a wide array of pediatric clinical and metabolic genetic services, including:
- Down syndrome
- Disorders of sex development
- Genetic oncology
- 22q11.2 deletion syndrome (also known as DiGeorge or velocardiofacial syndrome)
- Gathering relevant birth, medical and developmental history of the patient, including their detailed family history.
- Clinical evaluation by a board certified geneticist.
- Relevant diagnostic testing.
- Detailed explanation of the diagnosis, prognosis and treatment options.
- Discussion of reproductive and recurrence risks.
- Treatment after confirmation of abnormal newborn screening results.
- Dietary management for metabolic disorders.
- Explanation of recurrence risk in future children.
- Psychosocial support.
- Referral to appropriate medical specialists and community resources.
- Communication with the patient's primary care physician and related specialists.