Genetic Tests for Pediatric Neurological and Metabolic Disorders

Getting your child’s illness diagnosed might feel like a never-ending quest—especially if he or she is suffering from a complicated neurological or metabolic disorder. Courtagen’s comprehensive approach to genetic testing could help shed light on new information that may lead to a more accurate diagnosis, and potential treatment options for your doctor to explore.

An Important Connection

Richard Boles and his team at Children’s Hospital Los Angeles, along with colleagues around the world, conducted research that suggests that mitochondrial dysfunction is an important part of the genetic component of many of the functional and dysautonomic (disease or malfunction of the autonomic nervous system that controls many functions in the body) conditions, including: Autism spectrum disorder, Chronic fatigue, Depression, Cyclic vomiting, Irritable bowel syndrome, migraines and other chronic pain syndromes.

Finding Potential Treatment Options Through Testing

Ordering a comprehensive sequencing analysis test allows doctors to examine the genetic variants that may be contributing to disease and suggest potential treatments options.

Functional Disorders

Functional disorder is a medical condition that impairs the normal function of a bodily process, but where the body or associated organs appear normal under examination, imaging, laboratory values, or other standard studies. Multiple functional symptoms in one individual suggests a genetic condition as the underlying cause.

theraSEEK™

by Courtagen Life Sciences, Inc.

Courtagen’s theraSEEK® test is the Next Generation Sequencing test focused on genes associated with metabolism, physiological function, and neurologic development are factors in functional symptoms and disease

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Epilepsy and Seizure Disorders

Epilepsy is not a single disorder, but a collection of many disorders producing seizures affecting a variety of mental and physical functions. It’s also called a seizure disorder. When a person has two or more unprovoked seizures, they are considered to have epilepsy. A seizure happens when a brief, strong surge of electrical activity affects part or all of the brain. Seizures can last from a few seconds to a few minutes. They can have many symptoms, from convulsions and loss of consciousness to some that are not always recognized as seizures by the person experiencing them or by health care professionals.

epiSEEK® Spotlight™ Panels

by Courtagen Life Sciences, Inc.

Courtagen’s epiSEEK® Spotlight Panels test provide a targeted approach to genetic testing in cases where a patient’s symptomology is discernable. Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices. In many cases, the precise genetic diagnosis can be important in therapy selection.

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rxSEEK™ Epilepsy

by Courtagen Life Sciences, Inc.

Courtagen’s rxSEEK™ Epilepsy tests an individual’s ability to metabolize anti-epileptic drugs (AEDs) based on the haplotype sequence of certain liver enzymes involved in drug and chemical metabolism. Side effects from anti-epileptic drugs (AEDs) are not uncommon. About 61% of individuals using these drugs report an adverse effect, increasing the rate of treatment failure (PMID: 16238706).

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epiSEEK® Focus

by Courtagen Life Sciences, Inc.

Courtagen’s epiSEEK® Focus test is a next generation sequencing genetic assay. Courtagen extracts DNA from the patients’ saliva sample and analyzes it by searching for mutations in 71 genes highly associated with infancy and childhood onset of epilepsy and seizure disorders.

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epiSEEK® Comprehensive

by Courtagen Life Sciences, Inc.

Courtagen’s epiSEEK® Comprehensive is a next generation sequencing genetic test. Courtagen extracts DNA from the patients’ saliva sample and analyzes it by searching for mutations in 489 genes associated with epilepsy and seizure disorders.

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Mitochondrial Diseases

Mitochondrial disorders result from failures of the mitochondria, our cells’ power plants. When the mitochondria do not work properly, an energy crisis occurs—resulting in disease and disorder throughout the body.

Since all organ systems are energy-dependent, any one is at risk for becoming dysfunctional in the setting of reduced energy. Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual or hearing problems, lactic acidosis, developmental delays, and susceptibility to infection.

Courtagen offers the following tests for mitochondrial disorders:

nucSEEK® Spotlight Panels

by Courtagen Life Sciences, Inc.

Courtagen’s nucSEEK® Spotlight Panels are two highly targeted panels that analyze genes associated with classic mitochondrial disease and Leigh Syndrome. It provides a targeted approach to genetic testing in cases where a patient’s symptomology is discernable. Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices.

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mtSEEK®

by Courtagen Life Sciences, Inc.

Courtagen’s mtSEEK® test is a genetic test that identifies abnormalities in a person’s mitochondrial DNA (mtDNA).  UsingNext Generation Sequencing to sequence the 16,569 nucleotide bases, the analysis is performed from a saliva sample and sequences all 37 genes contained in the maternally inherited mtDNA.

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nucSEEK® Focus

by Courtagen Life Sciences, Inc.

Courtagen’s nucSEEK® Focus test identifies changes in the nuclear DNA that impact mitochondrial function. It is designed to target the documented disease associated nuclear genes related to known mitochondrial disorders.

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Neurodevelopmental Disorders

Developmental Delay (DD), Intellectual Disability (ID), and Autism Spectrum Disorders (ASD) are neurodevelopmental disorders that are typically diagnosed in early childhood. Often diagnosis of such disorders is challenging due to the wide range of symptoms, severity, nonspecific presentation, potentially overlapping differential diagnoses, or a rare disorder.

Developmental delay and intellectual disability occur in up to 3% of the general population. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with DD, ID and/or ASD.

Multiple lines of evidence support that genetic factors play a pivotal role in the etiology of these neurodevelopmental disorders. In recent years, molecular technologies have strikingly increased gene discovery and understanding the causes of genetic disorders. The rationale for a genetic evaluation is based on the goal of identifying a unifying diagnosis for a patient.

A definitive diagnosis provides the following benefits:

  • facilitates acquisition of needed services and support
  • can empower families with the knowledge of the underlying cause of a disorder
  • provides possible identification of treatment opportunities to improve patient outcomes
  • eliminates unnecessary and/or prolonged diagnostic testing

devACT® Spotlight Panels

by Courtagen Life Sciences, Inc.

Courtagen’s devACT® Spotlight Panels test provide a targeted approach to genetic testing in cases where a patient’s symptomology is discernable. Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices. In many cases, the precise genetic diagnosis can be important in therapy selection.

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devSEEK® Spotlight Panels

by Courtagen Life Sciences, Inc.

Courtagen’s devSEEK® Spotlight Panels test provide a targeted approach to genetic testing in cases where a patient’s symptomology is discernable. Knowing the genetic basis of a patient’s condition is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices. In many cases, the precise genetic diagnosis can be important in therapy selection.

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devACT®

by Courtagen Life Sciences, Inc.

Courtagen’s devACT® is a genetic test that identifies changes in a person’s DNA. The devACT® analysis is performed from a saliva sample and tests for just over 200 genes, many of which indicate treatable disorders. If a rare genetic disorder is identified, targeted treatment options can result in significant improvement for your child.

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devSEEK®

by Courtagen Life Sciences, Inc.

Courtagen’s devSEEK® is a genetic test that identifies changes in a person’s DNA. The devSEEK® analysis is performed from a saliva sample and tests for just over a hundred genes known to be associated with developmental delay, intellectual disability, and autism spectrum disorders.

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Lysosomal Storage Disorder

Lysosomal storage disorders are inherited metabolic disorders in which enzyme deficiencies cause an abnormal build-up of various toxic materials in the body’s cells. There are nearly 50 of these disorders, which may affect several different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.

lysoSEEK™

by Courtagen Life Sciences, Inc.

Courtagen’s lysoSEEK™ panel seeks out enzymatic deficiencies in the lysosomes, and looks at additional genes useful for differential diagnoses.

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