Physician Overview


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.



Common neurodevelopmental disorders encompassed in this test include developmental delay (DD), intellectual disability (ID), and autism spectrum disorders (ASD). 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 disorders are complex and extremely heterogeneous with a wide range of symptoms and severity. Multiple lines of evidence support the strong role of genetics in the etiology of these 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 471 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® Infancy and Childhood Epilepsy Panel, targeting 71 genes, associated with early onset epilepsy and seizure disorders.


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


When you partner with Courtagen, you’ll have the support of our top-notch experts, including:
  • Our medical director, Dr. Richard Boles, with 25 years of experience treating patients with metabolic and neurological disorders
  • Industry-leading geneticists, variant specialists, and clinical experts to interpret results
  • Our experienced bioinformatics team, using our custom analysis system to convert sequence data into relevant results
  • Genetic counselors available to answer your questions. Contact us via email at
  • Dedicated account managers to help streamline the process for your practice
  • A team of patient advocates to handle insurance pre-authorizations and claims


Once you’re registered with us, you can order tests quickly and easily online through our secure physician portal. Requisition forms are also accepted via fax. We offer flexible sample collection using saliva, blood, or tissue (no muscle biopsy required). Using a saliva specimen collection kit, patients can gather a sample at home and mail it directly to Courtagen. We’ll deliver a customized report, including actionable clinical recommendations, directly to your secure physician portal or via fax to your medical office. If you have any questions along the way, we offer personalized support from our sales team, patient advocacy group, and genetic counselors.  Courtagen accepts all commercial insurance carriers.  We process insurance pre-authorizations and claims for your patients.  In addition we offer Courtagen Care Financial Assistance Plan.