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 Noonan Syndrome/RASopathies, Short Stature Disorders, Microcephaly, Lissencephaly, and Holoprosencephaly, Congenital Disorders of Glycosylation, 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, Hyper/hypoglycemia MODY+, Hyperparathyroidism, Hypogonadotropic Hypogonadism / Kallmann syndrome, 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, Rhabdomyolysis, and Tuberous Sclerosis.
Other Spotlight Panels: Tests for other disorders, including Hemochromatosis, Porphyria, Ehlers-Danlos Syndrome, Periodic Fevers, and Abdominal Pain.
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Turn Around Time: 4-6 weeks. Results are delivered in weeks, not months.