Genetic Tests for Pediatric Neurological and Metabolic Disorders

Neurological and metabolic disorders can be complicated to diagnose and treat. Often, the clinical features are highly variable and non-specific, and many affected persons do not fit into one particular category. That’s why we’ve developed fast, accurate, and comprehensive Next Generation Sequencing tests. Using the latest technology and methods to sequence and analyze patient DNA, we provide results and insights that doctors can use to help guide patient care.

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

The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening, and disabling, to ones that are much more benign. Results from a genetic test may confirm a clinical diagnosis of a specific genetic syndrome or type of epilepsy. In addition, the specific type and etiology of seizures may influence the selection of antiepileptic medication for each patient. For example, certain medications may be contraindicated for patients with a specific genetic diagnosis

The latest epiSEEK® comprehensive panel features exceptional coverage of 489 genes associated with seizure disorders. Gene categories in this test include Angelman, Angelman-like Syndromes, Neuronal Ceroid Lipofuscinoses (NCL), Cerebral, Folate Deficiency, Creatine Deficiency Syndromes, Joubert Syndrome, Menkes Syndrome, Mowat-Wilson Syndrome, Rett, Atypical Rett Syndromes, Inherited Metabolic Diseases, Mitochondrial Dysfunction, Glycosylation Disorders, Idiopathic Generalized Epilepsy, Epilepsy in X-linked Intellectual Disability, Early Infantile Encephalopathy, Childhood Onset Epilepsy, Juvenile Myoclonic Epilepsy, Channelopathies, Cytochrome P450 genes,. Cannabinoid and Cannabadiol Pathways.

In addition, Courtagen offers the epiSEEK® Focus, targeting 71 genes, associated with early onset epilepsy and seizure disorders.

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

Genetic research is revealing that many—perhaps most—mitochondrial disorders do not fall under the traditional “classical” or severe mitochondrial disease umbrella. Instead, patients may suffer from a host of functinal disorders that have a basis in the body’s energy production function. Similar clinical features can be caused by different mutations in mtDNA or mutations in many different nuclear genes. Features of mitochondrial disease may include:

  • Central nervous system: seizures, myoclonus, ataxia, hypotonia, spasticity, chorea, dystonia, tremor, movement disorder, “stroke-like” events, headaches, migraine, central apnea, developmental delays, developmental regression, dementia, intellectual disabilities, autism or autistic-like features, behavioral issues
  • Peripheral nervous system: numbness, paresthesiae, pain
  • Autonomic nervous system: heat and cold intolerance, temperature dysregulation, abnormal sweating, pallor, blotchiness, mottling of the skin with or without provocation, dizziness, fainting
  • Muscle: fatigue, weakness, exercise intolerance, pain, spasms, tenderness, myoglobinuria
  • Eyes: blurry vision, diplopia, diminished vision, ptosis, ophthalmoplegia, optic atrophy, pigmented retinopathy
  • Hearing: hearing loss
  • Heart: cardiomyopathy, arrhythmia or heart block
  • GI: abdominal pain, bloating, abdominal distention, recurrent vomiting, chronic diarrhea, constipation, delayed gastric emptying, easy satiety, failure to thrive, gastroesophageal reflux, pseudo-obstruction
  • Liver: liver failure, hepatomegaly, dysfunction, fatty liver, cirrhosis, coagulopathy
  • Endocrine: short stature, diabetes mellitus, hypothyroidism, hypoparathyroidism, adrenal insufficiency
  • Skin: pallor, blotchiness, mottling of the skin with or without provocation, erythromelalgia, easy bruising
  • Metabolic: metabolic acidosis, lactic acidemia or acidosis, hyperammonemia, hypoglycemia, low carnitine, fatty acid ß-oxidation dysfunction, postprandial (paradoxical) ketosis, secondary neurotransmitter abnormalities

nucSEEK® Spotlight Panels

by Courtagen Life Sciences, Inc.

Courtagen’s nucSEEK® 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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mtSEEK®

by Courtagen Life Sciences, Inc.

Courtagen’s mtSEEK® test is a genetic test that identifies abnormalities in a person’s mitochondrial DNA (mtDNA). 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 uses Next Generation Sequencing to detect variants in these nuclear genes to add value in obtaining a definitive diagnosis, estimating prognosis, guiding treatment choices, and determining recurrence risks.

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Neurodevelopmental Disorders

Neurodevelopmental disorders such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorders (ASD) vary significantly from child to child with a wide range of symptoms and severity. Multiple lines of evidence support the strong role of genetics in the cause of these disorders.

A definitive diagnosis facilitates appropriate medical, developmental, educational, and community support interventions to optimize child and family well-being. Furthermore, the identification of a treatable genetic disorder can have a significant impact on guiding clinical management and improving outcomes and quality of life for the child.

Courtagen offers two next generation sequencing tests focused on DD, ID, and/or ASD. Often these two tests are ordered in combination; however they may also be ordered individually.

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 dozens 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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