All three of our physicians are board-certified to treat metabolic genetic conditions including (but not limited to) PKU, MSUD, Propionic academia, methylmalonic academia, galactosemia, carnitine deficiencies, MCAD, etc. 

• They work closely with our metabolic dietitian to optimize diets and calorie intake. 
• Each patient receives an individualized treatment plan and sick-day protocols.

If you or a loved one was born with a facial difference such as cleft palate, cleft lip or Pierre Robin sequence, genetics is part of a multidisciplinary clinic that will evaluate and guide your child’s treatment.

Learn more about cleft and craniofacial conditions.

If you think you could have Marfan Syndrome or have already been diagnosed with Marfan Syndrome, we have a specialty clinic housed in our cardiology department to evaluate and treat you. 

If you have a confirmed diagnosis of 22q deletion or 22q duplication syndrome, we have a multidisciplinary clinic that consists of genetics, endocrinology, immunology, ENT, speech pathology and nutrition that takes place in our genetics department. 

If you or a loved one has been diagnosed with epilepsy at a young age, we can evaluate you along with an epileptologist in our neurology department to determine if you qualify for genetic testing and what type of genetic testing is most appropriate for you or your family. 

The geneticist and/or genetic counselor will get to know you and your family. They will ask lots of questions about your medical history and family history. The geneticist will complete a physical exam, similar to what your primary care/pediatrician does. After that, they will have a discussion with you about if any genetic testing is recommended and why they are recommending that test. 

Genetic counseling involves analyzing medical history and family history to determine if any genetic testing might be right for you or a family member. The genetic testing recommended will be explained in detail and you will have the opportunity to ask questions and make an informed decision. When the results are available, genetic counseling involves explaining how this result may impact your future health or the health of your future family members. Inheritance patterns will be explained, and appropriate support and resources will be provided to you if needed. Genetic counseling can be provided by a genetic counselor or a geneticist.

No. Genetic testing is a personal decision. Our expert team is here to guide you in making recommendations and make sure you understand all of your options. The decision to pursue genetic testing is yours. In some cases, genetic testing may not be recommended if there is not a good genetic test available for your symptoms. 

Unfortunately, not everyone has an identifiable genetic condition that we are able to diagnose. There are many types of genetic tests available, so the chances of finding an answer for those who want one have certainly increased over the years. We also have options to refer patients who are undiagnosed to research studies that can help to try to find a diagnosis.

No. The geneticist is there to evaluate, diagnose, and if possible, treat your child’s symptoms. Sometimes research options are available, which will be discussed in detail if there is one appropriate for your family member’s condition. There is absolutely no obligation to participate in research studies if you are not interested.