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Medical Genetics at SSM Health Cardinal Glennon Children's Hospital 

The Medical Genetics Department at SSM Health Cardinal Glennon Children’s Hospital provides comprehensive clinical genetic services including evaluation, diagnosis, treatment, and genetic counseling. Genetic services are provided to individuals of all ages and their families.

Common Conditions

After Your Visit

Our Services

Additional Resources

 

Before Your Visit

Meet the Team

 

During Your Visit

Contact Us

 

Common Conditions

The Medical Genetics team is comprised of medical geneticists (physicians), genetic counselors, a clinical genetics nurse and a registered dietician. Together they provide education and assist families with the management of genetic and congenital disorders. These genetic conditions include:

Abnormalities identified by newborn screening

Birth defects

Chromosome Abnormalities

Developmental delay/learning disability

Familial conditions

Fetal alcohol syndrome

Genetic syndromes

Intellectual disability

Metabolic conditions

Multi-system malformations

Neurodegenerative conditions

Prenatal counseling

Recognized genetic syndromes

Patients are generally referred for a genetic evaluation or genetic counseling by their primary care physicians or other specialists. On occasion, individuals may self refer.

Our Services

Outpatient genetic services are available in SSM Health Cardinal Glennon's General Medical Genetics Clinic and Metabolic Genetics Clinic. In addition, we are involved in multispecialty clinics, including Neurofibromatosis and Cleft Lip and Palate.

In addition to serving patients at our main campus, the genetics team sees patients throughout the St. Louis and Illinois area. Get more information about SSM Health Cardinal Glennon at a location close to home.

We also offer cancer genetic counseling at SSM Health Cardinal Glennon Children's Hospital and SSM Health St. Mary's Hospital. Prenatal genetic counseling is available at the Maternal & Fetal Care Center at SSM Health St. Mary's Hospital. Inpatient genetic consultations are available at SSM Health Cardinal Glennon, SSM Health St. Mary's Hospital and SSM Health Saint Louis University.

Before Your Visit

Once patients are referred for a genetic evaluation or genetic counseling, a medical genetics intake form is mailed to be completed and returned prior to scheduling an appointment.  This form asks about the patient’s prenatal (pregnancy) history, medical history, developmental/academic history and extended family history.  Patients and/or parents are asked to sign consent for the release of medical records, so that appropriate medical records can be obtained prior to the appointment. 

During Your Visit

When possible, we encourage both parents to attend the genetics evaluation. The patient’s medical insurance card will be required to register for the appointment.

The initial genetic evaluation may last one to two hours. Many parents find it helpful to bring snacks and activities for the child to the appointment. Other items that may be helpful to bring to the appointment are photographs of the patient at different ages, as well as photographs of other family members. Medical records from other evaluations are also helpful.

Each evaluation and counseling session is different. Usually the patient’s first contact is with the clinical genetics nurse, who will explain what to expect during the appointment. The genetic counselor will review the medical genetics intake form with the patient or parents and construct a family pedigree (family tree). The clinical geneticist (a physician) will perform a thorough physical evaluation of the patient. 

Laboratory testing of blood or urine samples and/or other tests like X-rays may be recommended. Many of these tests can be done the same day as the appointment, whereas others will need to be scheduled for later dates or scheduled once approval has been obtained from the medical insurance provider. A patient might then be referred to other specialists like a cardiologist, neurologist, early interventionalist, etc.

If a diagnosis can be made, the patient and/or family will get a complete explanation (genetic counseling) about the condition. This explanation includes the potential cause of the diagnosis, other possible genetic and medical implications to the patient and family members, and recommendations for management. If a diagnosis is not clear at the time of the appointment, findings will still be reviewed with the patient and/or family. Genetic counseling about the possible explanations and recommendations for additional testing, evaluations and management is provided.  

After Your Visit

Following a patient’s visit, a consultation note summarizing the evaluation and recommendations is sent to the referring and primary physicians. Written information about a genetic diagnosis is given to the patient and/or parents at the time of the initial appointment whenever possible. If a diagnosis is confirmed after the initial evaluation, written information about the genetic condition is mailed to the patient and/or parents. 

If laboratory tests, imaging studies (e.g., ultrasound), or evaluations with other specialists are recommended during the initial visit, the clinical genetics nurse or genetic counselor will assist in arranging for these tests and evaluations. Once the results of these tests and evaluations are available, patients and/or parents will either be contacted by telephone with the results or asked to return for a follow up appointment to review the information in detail.

Contact Us

For more information or to schedule an appointment, please call 314-577-5639.

Additional Resources

SSM Health St. Louis Fetal Care Institute

Missouri First Steps Program

SOFT: Support Organization for Trisomy

Down Syndrome Association of Greater St. Louis

Genetic Alliance

Genetics Home Reference

John Thomas NKH Foundation

Marfan Syndrome Foundation

Missouri Department of Health & Senior Services Genetics Disease

Mother to Baby

National Human Genome Research Institute

Neurofibromatosis Midwest

National Organization for Rare Disorders

Meet the Team

Stephen R. Braddock, MD, Director of Medical Genetics

Jacqueline Batanian, PhD, Director, Cytogenetics

Amelia Kirby, MD, Clinical Geneticist

Adriana M. Montaño, PhD

James D. Shoemaker, MD, PhD

Rachael J. Bradshaw, MS

Katherine Christensen, MS

Margaret Hefner, MS

Ashley McElheny, MS, CGC

Hailey Pinz, MS

Erin E. Torti, MS

Laura Turlington-Waldman, MS

Debby Boylan, RN, BSN

Katie Carter, Metabolic Dietitian


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