Courtagen Life Sciences Blog

Disease Spotlight: Angelman Syndrome

Posted by Sarah Klemm, MS, CGC on Apr 12, 2017 2:23:00 PM

Photo Source: Angelman Syndrome Foundation

Angelman syndrome is a genetic condition that causes developmental and intellectual disabilities. Common features seen in Angelman syndrome are seizures, ataxia, unique facial features, small head size (microcephaly), and behavioral differences.

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Topics: Developmental Delay

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.

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

The Role of Genetic Testing in Diagnosing Autism Spectrum Disorder

Posted by Meghan Wayne, MS, LGC on Aug 10, 2016 12:00:00 PM

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.

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Topics: Genetic Testing, Developmental Delay, Autism Spectrum Disorder

Upcoming Webinar: The Role of Genetic Testing Panels in Clinical Practice

Posted by Courtagen Staff on Jul 27, 2016 4:08:36 PM
Genetic testing has become a powerful addition to the clinician's toolbox that can be deployed to help identify a definitive diagnosis and inform patient care, especially for neurological and metabolic disorders. 
 
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Topics: Epilepsy, Mitochondrial Disorders, Genetic Testing, Genetics, Developmental Delay

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".

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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.

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