Medical Genetics

The medical genetics and metabolism clinic at CHKD helps children and families whose hereditary and genetic factors play a role in causing a disease, birth defect or susceptibility to a health problem.

Conditions We Treat

We care for children with a variety of conditions, including:

• Genetic disorders
• Chromosome abnormalities
• Inborn errors of metabolism/critical newborn screens
• Birth defects
• Mental retardation
• Neurological disorders
• Developmental delay

Our Services

We tailor each child's treatment plan according to his or her unique needs. Among the services we may recommend for your child are:

• Diagnostic evaluation and testing
• Educational counseling
• Medical care and management
• Metabolic nutrition counseling and management of related conditions 

Read About Our Ongoing Clinical Trials in Medical Genetics

The medical genetics team consists of board-certified physicians, board-certified genetic counselors, a metabolic dietitian, nursing staff and various technical and office personnel, all of whom are trained to care for the special needs of children. Our division is dedicated to the care of children and genetic conditions.  

Insurance and Referral Information

All patients must have a referral from a primary care physician before they call to make an appointment. 

If your insurance is an HMO, you must also:

• Make sure your referral has not expired. Many are good for only 90 days, so check yours before scheduling an appointment. If your referral has expired, call your primary care physician and explain your situation. In most cases, your primary care physician will provide a new or extended referral.
• Bring the referral with you to the appointment. If you do not have a referral, or if the referral has expired, your HMO will not pay for your appointment.

We offer in-depth information about insurance in our  Billing and Insurance section. 

Before an appointment, patients are asked to:

• Obtain all medical records on the patient being evaluated
• Obtain a valid insurance referral
• Complete a new-patient packet. A packet will be mailed to you once the appointment has been scheduled.
• Gather family photographs for the initial visit
• Arrive 15 minutes before your appointment time to complete the registration process. Please remember to bring a valid insurance card, insurance referral (if required), new-patient packet, and family photos.
• If you are unable to keep your appointment for any reason, we ask that you call the office to cancel at least two days in advance. This will allow other patients to see our team of specialists.