We are happy to announce that we have added 17 new gene panels to our Spotlight line of tests. These new tests will expand our menu by 65%, offering new testing options in neurology, endocrinology, epilepsy, developmental delay, mitochondrial disease, and other disease areas.
After performing diagnostic testing on several thousand patients with seizure disorders, Courtagen's Clinical Team has described a variant in the ALG13 gene that directly causes infantile spasms, intellectual disability, and severe neurologic disease.
Earlier this week, voters in four states (Arkansas, Florida, Montana, and North Dakota) approved legislation that made medicinal marijuana legal in their respective states. Now more than half the states have approved medical marijuana in some form. It’s fitting that this landmark was reached in the month of November, which happens to be Epilepsy Awareness month.
Courtagen Life Sciences was prominently featured in Wednesday's PBS News Hour as part of their story on medical cannabis research.
Ngoc Minh Le, M.D., pediatric neurologist and Medical Consultant for Courtagen Life Sciences, presents the case of a 6-year-old patient who presented with global developmental delay, seizures, GI issues, and behavioral problems. Courtagen's epiSEEK® panel revealed a mutation on the SLC6A8 gene that is consistent with Creatine Transporter Deficiency Syndrome. After being placed on high-dose creatine monohydrate, arginine, and glycine, the patient became seizure free and his GI issues improved.
There are approximately 300,000 pediatric epilepsy cases in the US, with 45,000 newly diagnosed cases each year. Understanding the etiology (i.e. underlying cause) of epilepsy is essential for properly treating patients. Until recently, the etiology of epilepsy was regarded as unknown in about 75% of patients. However, because of new developments in sequencing technologies, genetic studies are yielding new discoveries every year that are helping patients unlock the underlying cause of their disease, allowing them and their care givers to make more informed decisions about their treatment.