Epilepsy panel screens for genes linked to Dravet, other disorders

Specialized test is designed for outpatient use, intended to assist clinicians

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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A double helix strand of DNA is shown.

Baylor Genetics is offering a gene analysis service on epileptic disorders, including conditions like Dravet syndrome. The specialized panel is designed for outpatient use and is intended to assist clinicians in assessing the genetic factors underlying a patient’s epilepsy.

“When a genetic cause of epilepsy is suspected, a fast and accurate diagnosis is essential to optimize symptom management and treatment and, in some cases, provide information on long-term outcome,” Christine Eng, MD, chief medical officer and chief quality officer at Baylor Genetics, said in a press release. “Not only is our epilepsy panel comprehensive, we also offer flexibility on specimen types, including blood, buccal swab, saliva, purified DNA, and cultured skin fibroblast.”

Baylor is offering an epilepsy panel and a STAT epilepsy panel. The epilepsy panel for conditions of suspected genetic origin evaluates 397 genes associated with epilepsy for Angelman, Rett syndrome, Charcot-Marie-Tooth disorders, SCN1A-related epilepsies, CDKL5 deficiency disorder, and developmental and epileptic encephalopathies. Dravet syndrome is a rare and severe form of epilepsy caused, in most cases, by mutations in the SCN1A gene.

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Screening for genes linked to epilepsy

The STAT epilepsy panel focuses on 76 genes that have been implicated in specific treatments or have been associated diagnostically with both syndromic and nonsyndromic epilepsy and seizures. It’s designed for patients with new onset epilepsy or notable changes in the frequency or character of seizures that require immediate attention. The STAT panel ensures a quick turnaround time of 10 days for results. Syndromic epilepsy refers to a group of syndromes wherein seizures are one aspect of a broader clinical picture. Nonsyndromic epilepsy describes conditions where seizures are the primary symptom.

“We’re proud to be a trustworthy genetic testing partner for many healthcare providers,” said Kengo Takishima, president and CEO at Baylor Genetics. “Our epilepsy panels are another offering to help both providers and their patients get answers to help end the diagnostic odyssey.”

Baylor maintains in-house genetic counselors that assist with interpreting the results and a customer service team to answer questions.

Baylor Genetics also makes comprehensive genetic tests available that use next-generation sequencing technologies to analyze all the genes present in DNA, called the genome.

One of them, called whole-exome sequencing, sequences only the parts of the genome that code for proteins, called the exome. It’s a more efficient and economical alternative to whole-genome sequencing, which Baylor also offers. That analysis covers all the parts of the genome, including the regions between genes that don’t code for proteins, but may play a role in diseases.