EpiPanelDx PLUS is a genetic test that performs sequencing and deletion/duplication analysis of 244 genes associated with syndromic and non-syndromic causes of:
Bionano Laboratories offers unlimited clinical support to patients and providers through access to our genetic counselors who can discuss testing capabilities, strategy, informed consent, and results.
Providers can call our genetic counselors at
Our comprehensive and curated gene panel assesses over 200 genes. These genes were selected from medical literature based on their primary association with epilepsy. Genetic testing results may confirm a clinical diagnosis, help clinicians and families make informed healthcare decisions, negate the need for additional diagnostic tests, and inform family planning and genetic counseling.
DNA is barcoded and enriched for the coding exons of targeted genes known to be associated with epilepsy using hybrid capture technology. Prepared DNA libraries are then sequenced using next-generation sequencing technology. All genes are evaluated for large deletions and/or duplications.
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 EpiPanelDx 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 EpiPanelDx 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.