Genetic TestingCourtagen offers easy-to-use genetic testing for patients with symptoms of neurological and metabolic disorders. Using the latest Next Generation Sequencing technology, we turn test results into insights that could lead to answers for physicians and families in search of diagnosis and treatment options. A single saliva sample can provide comprehensive results in weeks versus months, eliminating the need for costly, invasive procedures.
EPILEPSY AND SEIZURE DISORDERS
Epilepsy is defined by the occurrence of at least two unprovoked seizures occurring more than 24 hours apart. Epilepsy and seizure disorders may be isolated to neurological symptoms, or it may be associated with other medical issues such as developmental delay or regression, intellectual disability, autism spectrum disorders, or other movement disorders. Knowing the genetic basis of a patient’s epilepsy can be valuable not only for diagnosis but also for guiding treatment and determining prognosis.
Courtagen offers three Next Generation Sequencing tests for epilepsy and seizure disorders:
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, AUTISM SPECTRUM DISORDERSNeurodevelopmental 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.
LYSOSOMAL STORAGE DISORDERS AND PEROXISOMAL BIOGENESIS DISORDERS
Lysosomal storage disorders (LSDs) and peroxisomal biogenesis disorders (PBDs) are a group of over 50 rare diseases in which a deficiency of proteins or enzymatic activity in the lysosomes or peroxisomes leads to a toxic accumulation of substrate (incompletely digested molecules). Diagnosis can be challenging due to the wide range and overlapping nature of symptoms between LSDs and PBDs and other diseases. It is important to obtain an early and precise diagnosis (typically within the first year of life) in order to take advantage of all potential treatment options.
MITOCHONDRIAL DISORDERSMitochondrial disorders result from failures of the mitochondria, our cells’ power plants. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When the mitochondria do not work properly, an energy crisis occurs—resulting in disease and disorder throughout the body.
The signs and symptoms of mitochondrial disease vary greatly from patient to patient, making an accurate
clinical diagnosis difficult. Patients with mitochondrial dysfunction may suffer from disorders that have a
basis in the body’s energy production function, including: Migraine, Cyclic vomiting syndrome (CVS), Irritable bowel syndrome (IBS), Autism spectrum disorder (ASD), Chronic fatigue. Muscle weakness, and Fibromyalgia.
MITOCHONDRIAL DISORDERS ARE HIGHLY SUSPECTED WHEN:
Courtagen's nucSEEK® and mtSEEK® sequencing tests provide the most comprehensive identification of genetic variants associated with mitochondrial disease.