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Specialties & Conditions Epilepsy Genetics Testing & Consultation Clinic
The epilepsy genetic consultation provides a consultation for children with known genetic epilepsy syndromes. The goal of the epilepsy genetics clinic is to offer expert clinical consultation with an epilepsy physician and supportive services (genetic counselor, social worker) as needed. Medical information and all lab, EEG, and imaging testing needs to be provided prior to this clinic in order to be fully reviewed prior to the clinic appointment.
The epilepsy genetics testing clinic provides evaluation and support for children and families with known or suspected genetic epilepsy syndrome.
Prior to your child’s visit, the epilepsy genetics team will review your child’s medical history. At the clinic appointment, you and your child will meet with a nurse practitioner, genetic counselor, and social worker. During the clinic appointment, a detailed medical and family history will be discussed. A physical exam will also be completed, in addition to discussion of recommended genetic tests and/or your child’s previous genetic testing results. The clinic can provide resources and support, as learning genetic information can sometimes be emotionally difficult. In most cases, prior authorization from your insurance company is necessary prior to proceeding with genetic testing. This clinic is often 1-2 hours in length. Both parents and the patient need to attend the clinic.
Genetic testing is usually performed on a blood sample, or less frequently, on a saliva sample. The DNA is extracted (taken out) of the cells and analyzed in the genetic testing lab. The genes that are analyzed in the laboratory are the genes specifically ordered by your provider. Most people have a type of genetic test called a panel. Panel tests look at multiple genes related to the same condition. Panel tests vary in the number and type of genes included. Some patients have a test called a microarray. This looks for big pieces of genetic information that are missing or extra. Other patients have a test called Whole Exome Sequencing, which analyzes all of the genes in the body that code for proteins. This test focuses on genes related to the indication for testing, but can also reveal unexpected findings if a family decides to find out this extra information (i.e. a hereditary cancer syndrome or a hereditary cardiovascular disease).
Genetic testing is useful in the diagnosis and management of children with epilepsy. Because there is phenotypic overlap between several genes related to epilepsy, genetic testing is the only way to know the cause for certain. Having a genetic diagnosis allows you and your child’s doctors to have better information about prognosis, understand the chance of someone else in the family having epilepsy, choose a better medication or treatment, avoid other invasive or expensive testing to find the cause, and to connect with other families who have the same or a similar diagnosis.
Genes are our body’s instructions for how to make proteins. Proteins are the building blocks of our body. Our genes are stored on structures called chromosomes, which are located in the nucleus of every single cell in our body. Humans have approximately 22,000 genes.
A mutation is like a mistake in the gene. Think of genes like recipes. If you're baking a cake and follow the recipe exactly, it should turn out as intended. However, if there is a mistake in the recipe, the cake is still able to be made but it will not turn out correctly.
This is similar to how mutations work in our genes. If there is a mistake - or a mutation - in a gene, the protein can be made incorrectly or in some cases, not made at all.
In most cases where testing is medically necessary, health insurance companies will cover genetic testing. Prior authorization and pre-determination through your insurance company is important to make sure the testing is covered and to determine your out of pocket cost for testing.
In 2008, the United States passed the Genetic Information Nondiscrimination Act (2008). This prohibits health insurance companies and employers from using genetic information or genetic diagnoses against patients. However, this act does not protect against discrimination from life insurance companies, long-term care insurance companies, and disability insurance companies. For more information, please visit ginahelp.org.
Entry into the epilepsy genetics clinic is done through our Epilepsy Center’s physician referrals. To schedule an appointment with one of our epileptologists, call our Epilepsy Center at 312.227.3540.
