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 team work 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.
Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner or your baby carry genes for certain inherited disorders.
Each human being is made up of a unique set of chemical blueprints that contain our DNA. DNA makes up our genetic code. There are some 25,000 to 35,000 genes in each human being. Genes determine all kinds of things like hair and eye color, height, curly or straight hair, skin tone and gender. Sometimes there is a change in a gene which can result in a birth defect or health issue. In some cases the genetic change becomes hereditary and can be passed on from parent to child. Knowing if a child's medical problems are genetic, or not, can help caregivers create a more accurate diagnosis and determine the best course of treatment.
We offer a wide array of specialized genetic services, including:
- 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.
- Psychosocial support.
- Referral to appropriate medical specialists and community resources.
- Communication with the patient's primary care physician and related specialists.
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.
Inherited, or genetic, metabolic disorders affect metabolism. Metabolism is how the body converts the fuel from food into the energy needed to do everything from moving to thinking to growing. Inherited metabolic disorders are caused by an error in a person's genes. Genetic testing for metabolic disorders results in a more accurate diagnosis and appropriate treatment plan, and can help patients and families determine the best short- and long-term care.
From testing and diagnoses to treatment and support, we offer a wide 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.
Monthly Down syndrome clinics are available to help children and their caregivers understand and address unique needs and manage this diagnosis. Please call 682-885-2170 for more information.