Spotlight™ Panels - Symptom-based Panels for Treatable Disorders
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, particularly when there are known contraindications or recommended treatment options based on genetic results. Courtagen’s Spotlight™ panels provide a targeted approach to genetic testing when a patient's symptomology is discernable. Each panel contains between approximately 3 to 50 genes selected to address a group of disorders with overlapping symptoms, making test selection clear and straightforward.
Epilepsy Spotlight Panels: Tests that cover a range of seizure disorders, including Absence Seizures, Aicardi-Goutieres Syndrome, Benign Epilepsies, Brain Malformation Seizures, Early Infantile Epileptic Encephalopathy (EIEE), Fever Sensitive Seizures, Focal Seizures, Infantile Spasms, Joubert Syndrome, Myoclonic A (Progressive), Myoclonic B, Neonatal Seizures, Treatable Seizures.
Developmental Delay Spotlight Panels: Tests that target neurodevelopmental and metabolic disorders, including Microcephaly, Lissencephaly, Holoprosencephaly, Neuronal Ceroid Lipofuscanosis (NCL)/Batten’s Disease, Urea Cycle Disorders, Vanishing White Matter Leukoencephalopathy, and Zellweger Syndrome.
Mitochondrial Spotlight Panels: Tests for mitochondrial disorders, including Leigh’s Syndrome, and Classical Mitochondrial Disorders.
Endocrine Spotlight Panels: Tests for endocrine disorders, including Bardet-Biedl Syndrome, Heriditary Pancreatitis, Hyper/hypoglycemia MODY+, Hyperparathyroidism, Hypogonadotropic Hypogonadism / Kallmann syndrome, Monogenic Obesity, Osteogenesis Imperfecta, and Combined Pituitary Hormone Deficiency.
Neurological Spotlight Panels: Tests for neurological and neuromuscular disorders, including Centronuclear Myopathy, Congenital Muscular Dystrophy, Congenital Myasthenia, Congenital Myopathy, Distal Myopathy, Dystonia, Hereditary Spastic Paraplegia, Limb-Girdle Muscular Dystrophy, Migraine, Myofibrillar Myopathy, Myopathy with Contractures, Neuropathic Pain, Periodic paralysis, and Rhabdomyolysis.
Multi-system & Syndromic Spotlight Panels: Tests for other disorders, including Autoinflammatory Disorders, COACH Syndrome, Cystic Lung Disease, Congenital Disordorders of Glycosylation, Immune Dysregulation Disorders, Joubert Syndrome, Meckel-Gruber Syndrome, Noonan Syndrome / RASopathies, Primary Ciliary Dyskinesia, Senior-Loken Syndrome, Short Stature, Tuberous Sclerosis Complex, Abdominal Pain, Ehlers-Danlos Syndrome, Hereditary Hemochromatosis, Periodic Fever Syndromes, Porphyria, Stickler Syndrome.
Courtagen's Unmatched Customer Support
Turn Around Time:4-6 weeks. Results are delivered in weeks, not months.
Saliva Sample:DNA for sequencing is reliably extracted from a single saliva sample. No blood draw or muscle biopsy required. (Whole blood and tissue are accepted, as requested.)
Insurance Assistance:Courtagen works with patients, physicians, and insurance carriers to pre-approve each test. Courtagen will bill the insurance company, and is willing to handle an appeal process as needed.
Courtagen Care Financial Assistance Program: Provides financial assistance to patients based on demonstrated financial need.
Online Portal:A secure physician online portal is available for ordering genetic tests and accessing patient reports when completed.
Genetic Counselors: Available to address physician’s questions regarding Courtagen test results. Contact us at email@example.com.
Clinical Experience:Courtagen’s Medical Director, Laboratory Director, and variant science team have over 25 years of experience in the treatment and genetic interpretation of neurological disorders.
Reports:Utilizing Courtagen’s customized Ziphyr® informatics pipeline and thorough clinical evaluation, each report is provided in a concise format with interpretation and recommendations for consideration.