SAN DIEGO, Sept. 14, 2020 -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the release of EpiPanel^Dx PLUS™ by its diagnostics services business, Lineagen. The new laboratory developed test (LDT) and associated clinical support bolsters Lineagen’s diagnostic services for physicians providing care for pediatric patients with neurodevelopmental disorders (NDDs). EpiPanel^Dx PLUS is based on a proprietary panel of 223 genes associated with epilepsy-related conditions, more genes than typically found on epilepsy panels available from other service providers and customized for Lineagen’s core market of neurodevelopmental disorders.

Epilepsy refers to an array of neurological disorders characterized by involuntary seizures and affects approximately 1.2% of the population, or 3.4 million people, in the United States. It is frequently comorbid with other NDDs of childhood development, including intellectual disability and autism spectrum disorder and also can co-occur with neuro-behavioral disorders such as attention deficit hyperactivity disorder (ADHD). Collectively, NDDs represent the most common form of developmental disorder with an estimated prevalence of 1 out of 6 children affected in industrialized countries. Lineagen’s current menu of FirstStep^Dx PLUS^® chromosomal microarray and NextStep^Dx PLUS^™ whole exome sequencing offers leading molecular diagnostic tests designed to help pediatricians and pediatric neurodevelopmental specialists manage their patients with NDDs. Offering such physicians a test for epilepsy allows Lineagen to more comprehensively serve their needs.

“Identifying the underlying genetic variants that may explain the underlying cause of seizures is extremely important because it informs multiple aspects of clinical care,” said Alka Chaubey, PhD, Chief Medical Officer of Bionano Genomics. “This test allows for personalized treatment of the patient, can predict the recurrence risk for other members of the family, and ends the diagnostic odyssey, which for many families can mean years of doctor visits, invasive tests, and failed or even harmful treatments.”

EpiPanel^Dx PLUS is designed for patients who have experienced seizures, infantile spasms, encephalopathy, or febrile seizures, and has an expected 30% diagnostic yield. Lineagen also offers testing to the parents of the patients. By including the analysis of the genomes of one or both biological parents of the patient from the start, it is possible to increase the detection rate of disease-causing variants and inform on recurrence risk for the family. EpiPanel^Dx PLUS has been curated based on thorough literature review and includes genes with pathogenic variants identified in more than 2,000 epileptic patients tested by Lineagen.

The use of a targeted gene panel such as EpiPanel^Dx PLUS fits the testing strategy that is recommended by the American Academy of Neurology and complements existing genetic tests offered by Lineagen such as FirstStep^Dx PLUS chromosomal microarray and NextStep^Dx PLUS whole exome sequencing, which are recommended for patients who show a wider array of neurological symptoms. To help tailor medical management, Lineagen also offers pharmacogenomic testing which includes certain genes that are responsible for the metabolism of important anti-epileptic or anticonvulsant drugs prescribed for epilepsy.

“We already have a depth of knowledge on epilepsy genetics,” added Dr Chaubey. “We recently tested a 3-year-old girl with muscle spasms and seizures, as well as her parents, and identified a mutation in the SLC2A1 gene. Based on these results, the doctor was able to treat the child with a simple ketogenic diet and over-the-counter supplementation. If she had instead been treated with barbiturates, at one time a standard treatment for epilepsy patients and now contraindicated in patients with this specific genetic condition, her seizures likely would have gotten worse. This case is one of many where results of a genetic test enabled the family and treating physician to significantly improve the quality of life of the child and family.”

"Adding the EpiPanel^Dx PLUS test to Lineagen’s menu is a critical step forward in our plan for Lineagen to grow and continue supporting the physicians who rely on them," said Erik Holmlin, PhD, Chief Executive Officer of Bionano Genomics. "This test also forms the basis of how we envision incorporating the Saphyr system for comprehensive structural variation analysis into an improved diagnostic testing approach for epilepsy. In its current form, the EpiPanel^Dx test uses next generation sequencing (NGS) to identify single nucleotide variants and for evidence of gene deletion or duplication in 223 genes. Deletions and duplications are examples of structural variations (SVs) that NGS can detect with reasonable sensitivity, but otherwise, NGS is essentially blind to certain SVs that Saphyr detects with ease. We believe using Saphyr in conjunction with NGS can enable later generations of EpiPanel^Dx PLUS to have potentially higher diagnostic yields by identifying more genetic variations, which may in turn diagnose more patients, and be a unique combination in the industry.”

The EpiPanel^Dx PLUS diagnostic test is available now with full clinical support including genetic counselling. More details on the diagnostic test are available at https://lineagen.com/epipanel/