Courtagen Life Sciences Blog

The Power of Parents: How Parent Samples Improve Genetic Testing Results

Posted by Cheryl Scacheri, MS, LGC on Dec 8, 2016 10:45:00 AM

At Courtagen, we offer DNA testing that uses next generation sequencing to diagnose neurological, mitochondrial, and other disorders. Because the brain and mitochondria are so complex, many of our panels have a thousand genes or more.

Read More

Topics: Seizure Disorders, Mitochondrial Disorders, Genetic Testing, Developmental Delay

ALG13: X-Linked Gene Causes Severe Neurological Disease in Females

Posted by Stacey Wong, MS, LCGC on Nov 22, 2016 9:04:00 AM

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.

Read More

Topics: Epilepsy, Seizure Disorders, Genetic Testing

Benefits of Ordering Genetic Testing at the Beginning of the Diagnostic Process

Posted by Courtagen Staff on Jul 14, 2016 2:53:33 PM

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".

Read More

Topics: Seizure Disorders, Genetic Testing, Developmental Delay

Quick Case: Creatine Supplementation as Treatment for Seizure Disorder

Posted by Courtagen Staff on May 16, 2016 2:48:26 PM

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.

Read More

Topics: Epilepsy, Seizure Disorders, Genetic Testing, Developmental Delay

Why Everyone with Epilepsy Should Get a Genetic Test

Posted by Mann Shoffner on May 10, 2016 1:08:00 PM

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.

Read More

Topics: Epilepsy, Seizure Disorders, Genetic Testing