EpiPanel^Dx PLUS Genetic Testing

Individuals who have a diagnosis of epilepsy or have experienced seizures, febrile seizures, infantile spasms, or encephalopathy are relevant candidates for this test. Identifying a specific genetic etiology of these symptoms may help determine more appropriate and tailored medical management, provide information on the course of the disease, and demonstrate a need to test at-risk relatives.

This test can be performed for a single individual or samples can also be submitted for one or two relatives (preferably biological parents). When both parental samples are available to analyze alongside the primary individual, we call this “trio testing.” Trio testing has several advantages, including a slightly increased diagnostic rate for the patient and automatic inheritance information to assist with clinical interpretation and the family’s recurrence risk estimations. Importantly, only the patient receives a report as the primary purpose of the parental samples is to assist in the interpretation of their child’s results.

There are many different types of genetic tests, and EpiPanel^Dx PLUS is just one. Each genetic test can look at the genome in its own way, and no single genetic test can diagnose all currently known genetic conditions. For this reason, a non-diagnostic EpiPanel^Dx PLUS test alone is not sufficient to eliminate a genetic condition as the cause of a patient’s symptoms.

Other types of tests, such as chromosomal microarray analysis or whole exome sequencing, may also be considered especially for individuals with epilepsy. Additionally, an evaluation or consultation by a medical geneticist (physician who specializes in genetic conditions) or genetic counselor could be useful to help determine a follow-up testing strategy.