Athena Diagnostics is pleased to announce the availability of next-generation sequencing for epilepsy, starting April 2, 2014. Epilepsy is one of the most common serious neurological diseases, characterized by multiple unprovoked seizures (surges of electrical activity in the brain that disrupt function). Epilepsy may be of genetic origin if a brain tumor, trauma or infection can be ruled out. A genetic test can provide a conclusive diagnosis that can guide drug therapy, end a laborious and stressful diagnostic odyssey, and provide inheritance and recurrence implications.
There are eight epilepsy panels based on the epilepsy clinical phenotype and EEG findings and one comprehensive panel.
Test Code 5001, Epilepsy Advanced Sequencing Evaluation – Generalized, Absence, Focal, and Myoclonus Epilepsies (36 Genes).
Indications: Patients with electroclinical findings associated with generalized or partial seizures, myoclonic, absence or recurrent febrile seizures.
Test Code 5002, Epileptic Encephalopathies (31 Genes).
Indications: Patients with severe epilepsy and developmental delay that usually begins at an early age. The EEG patterns suggest an encephalopathy with the presence of spike and polyspikes. These patients are sometimes diagnosed with Lennox-Gastaut syndrome.
Test Code 5003, Neuronal Migration Disorders (NMDs) (29 Genes).
Indications: These patients usually have evidence of abnormal cortical development on MRI of the brain with severe cognitive deficits. NMDs are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they originate to areas where they will form specialized neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of molecular and cellular guides and chemical signals. When these signals are absent or incorrect, neurons do not migrate properly resulting in the disruption of normal brain development.
Test Code 5004, Epilepsy in X-Linked Intellectual Disability (27 Genes).
Indications: These patients are usually males with an intellectual disability who are from families showing an X-Linked or de novo inheritance pattern.
Test Code 5005, Neuronal Ceroid Lipofuscinosis (NCL) (10 Genes).
Indications: Patients with NCL, otherwise known as Batten disease. NCL is a fatal, inherited disorder of the nervous system that typically begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or physicians begin to notice the development of vision problems or seizures in a previously normal child. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness or stumbling. Over time, affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden and demented. Batten disease is often fatal by the late teens or twenties.
Test Code 5006, Epilepsy Associated with Migraine (7 Genes).
Indications: Individuals and family members with the co-occurrence of migraines and seizures (migralepsy). Migraine and epilepsy are comorbid, episodic disorders that share many clinical features and underlying pathophysiological mechanisms such as cortical spreading depression and neuronal hyperexcitability associated with localized epileptiform discharges.
Test Code 5007, Syndromic Disorders with Epilepsy (26 Genes).
Indications: Patients with a constellation of major and minor physical anomalies that is associated with recurrent seizures.
Test Code 5008, Infantile Spasms (10 Genes).
Indications:Patients with infantile spasms (ISS) or West syndrome. These patients are characterized by clusters of epileptic spasms associated with an electrodecrement on EEG. West syndrome refers to the triad of spasms, a hypsarrhythmia pattern on EEG, and intellectual disability or regression. ISS usually occurs before the age of 1 year but may occur later in infancy or childhood. The seizures may not manifest as classic flexor or extensor spasms, and hypsarrhythmia may only be an associated feature of the interictal EEG.
Test Code 5000, Comprehensive (141 Genes).
Indications: Patients with an unclear or mixed electroclinical phenotype.
Targeted familial sequencing and prenatal testing will be available beginning July 1, 2014 to complement our new advanced sequencing epilepsy tests.
Specimen Requirements: 7 – 10 mL whole blood, lavender-top tube (EDTA)
If you have any questions, please contact our client services department at 800-394-4493, extension 2 between the hours of 8:30am to 6:30pm EST, Monday through Friday.