Maybe your physician has ordered genetic testing for you, or perhaps you’ve been wondering if it might be helpful to have your child undergo a genetic test. Perhaps you are a physician who has never used genetic testing as a diagnostic tool before. If you are considering a genetic test for any reason, but aren’t sure if it’s something you want to pursue, this article is for you.
Editor's note: The following post was written by Kim Ruckman, a mother whose child experienced positive behavioral and mood changes following genetic testing through Courtagen. Although the testing did not result in a definitive diagnosis in this case, it did inform important dietary changes that made a big difference in this child's quality of life.
Editor’s Note: Each month, Courtagen will feature a disorder or condition that can be diagnosed or identified through one of our multi-gene panels. This month, we are taking a look at Autism Spectrum Disorder, a complex condition for which there are multiple lines of evidence supporting genetic factors play a role in its etiology. Courtagen's devSEEK® Triome, devSEEK®, and devACT® tests target genes associated with neurodevelopmental conditions, including ASD.
This past Saturday, representatives from Courtagen and Medicinal Genomics joined a team of 35 volunteers at the THERASurf event at Venice Beach in Malibu, CA. More than 80 families participated in the event, enjoying the sun and surf on a beautiful Southern California day.
Topics: Courtagen Gives Back
There is a longstanding adage in clinical genetics that states, "If a patient has seen as many specialists as they are years or months old, then it is time to refer them to a genetics clinic".
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.