Genetics (metabolic)
Cook Children’s metabolic genetics program offers evaluation and treatment of inherited metabolic conditions to help families understand and cope with their child’s diagnosis.
Metabolic disorders can be inherited or acquired. Inherited, or genetic, metabolic disorders are caused by an error in a person’s genes. Genetic testing for metabolic disorders result in a more accurate diagnosis and appropriate treatment plan, as well as help patients and families determine the best short- and long-term care.
Our services
From testing and diagnoses to treatment and support, we offer a wide of array of services for patients and families, including:
- Gathering of relevant birth, medical and developmental history of the patient, as well as a detailed family history.
- Evaluation by a board-certified geneticist.
- Ordering of relevant diagnostic tests.
- Explanation of the diagnosis, prognosis and treatment.
- 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 community resources.
- Communication with patient’s primary care physician and other specialists.
