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Epilepsy Next-Generation Sequencing Guide

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Epilepsy Next-Generation Sequencing Guide Phenotype-based Neurology Next-Generation Sequencing with Epilepsy Copy Number Variant Analysis Generalized, Absence, Focal, Febrile, and Myoclonic Epilepsies Epileptic Encephalopathy Developmental Brain Malformations Intellectual Disability Neuronal Ceroid Lipofuscinosis Epilepsy with Migraine Syndromic Disorders Infantile Spasms Now with 234 genes Getting a clearer picture of the causes of epilepsy Harnessing the power of NGS for earlier diagnosis Athena Diagnostics offers a comprehensive approach to diagnosing the causes of epilepsy, which may be helpful when considering different treatment options and avoiding contraindicated drugs. Our phenotype­based approach is supported by clinical diagnostic exome sequencing to provide molecular diagnosis for a significant proportion of patients with epilepsy.11 The benefits include: • An accurate diagnosis sooner at typically less cost Phenotype- When your patient presents with epilepsy based NGS than traditional methods testing with CNV analysis symptoms, the specific cause is not always • Reduced turnaround time (TAT) clear. Using next-generation sequencing • More informed future Athena Diagnostics (NGS) to uncover a genetic cause of planning for the patient NextGen and their family Fast, testing In-depth disease may lead to answers that can cost-efficient results NGS technology interpretation aid in identifying the most appropriate treatment and care for your patient. ® Athena Diagnostics provides NGS A comprehensive panel delivering actionable insights evaluations for epilepsy arranged by clinical Athena Diagnostics Epilepsy Advanced Sequencing and CNV phenotype, testing the most comprehensive Evaluations feature: collection of clinically-relevant genes • Next­generation sequencing and CNV testing for 234 genes known to be associated with epilepsy, • Phenotype­guided evaluations, making test selection easier and which streamlines the diagnostic process may help avoid costly, unnecessary testing and may save time and money. • NGS technology for excellent sensitivity and specificity, supported by a proprietary bait library process to boost results • A single blood draw, with a 28­35 day turnaround By combining NGS technology, copy number • Athena Insight™, providing in­depth variant interpretation and variant (CNV) analysis, fast turnaround reporting, fully backed by a dedicated team of experts to ensure time, and Athena Insight™, Athena optimal analytic value Diagnostics offers a uniquely powerful • Genetic counselors and medical directors available to provide clinicians with in­depth information on the nature, inheritance, diagnostic toolset for epilepsy that can and implications of genetic test results, as well as guidance on make an important difference in the care test selection of your patient and can help predict the risk of disease in family members. Accurate and early diagnosis of epilepsy syndrome, when possible, is essential for both evaluation and treatment because specific antiepileptic therapies are increasingly recognized.1 Phenotype-based testing for the causes of epilepsy At Athena Diagnostics, we’re committed to helping you and nonspecific clinical findings. The organization of deliver efficient, quality healthcare. That’s why our test these panels is based on evidence from publications using selection is intuitive — conveniently arranged by clinically­ NGS as a diagnostic tool for epileptic disorders and relevant relevant groups of disease phenotypes. This approach is variant databases.2,3,4 especially useful in diagnosing cases with broad phenotypes Tested phenotypes and characterizations Epilepsy Advanced Sequencing and CNV Evaluations Epilepsy Advanced Sequencing and CNV Evaluations 6008 6010 6018 6019 6022 6023 6033 6038 6000 Generalized, Absence, Epileptic Developmental Intellectual Neuronal Ceroid Epilepsy Syndromic Infantile Epilepsy Advanced Focal, Febrile and Encephalopathy Brain Malformations Disability Lipofuscinosis with Migraine Disorders Spasms Sequencing and CNV Myoclonic Epilepsies Evaluation 84 genes 67 genes 40 genes 56 genes 13 genes 7 genes 31 genes 16 genes 234 genes • Myoclonic seizures • High probability of encephalopathic • Severe cognitive deficits and epilepsy • Clinical and EEG spectrum of seizure • Mental and motor • Epilepsy and/or migraine that • Variable and complex • Clusters of epileptic flexor/ • May include nonspecific • Absence seizures (“Petit Mal”) features that present or worsen after recognized primarily in childhood types range from fever-induced deterioration can precede or succeed each phenotypes that include extensor spasms with ictal phenotypes epilepsy onset seizures only, to recalcitrant other or occur simultaneously epilepsy11 electrodecrement • Tonic seizures • Brain malformations observed on • Epilepsy • Characteristics can • Developmental delay or regression neuroimaging hypsarrhythmia-associated seizures • Predisposition for epilepsy: • Age of onset usually before include those in the 8 • Clonic seizures • Visual loss relative to same-age peers 6 • Seizures accompany but do not cause EEG can measure pre- 1 year subpanels listed • Microcephaly • Ataxia • Tonic-clonic seizures (“Grand Mal”) • Often pharmaco-resistant5 developmental delay disposition for seizures • West syndrome (infantile • Accumulation of and show lack of habituation • Atonic seizures • May occur at any age but most common • May be de novo or have X-linked spasms, hypsarrhythmia, 7,8 autofluorescent storage for migraine • Febrile seizures and severe in infancy and early inheritance pattern developmental delay) material upon tissue biopsy • Repeated episodes of • Focal seizures childhood, when global and profound • May be accompanied by cognitive impairment may occur • Variable age of onset, from paroxysmal events, e.g.: cognitive impairment, autism, • Electroclinical syndromes congenital to adult seizures or headache, often and movement disorders4 characterized by recognizable entities • Mostly autosomal recessive preceded by prodromes and/or 10 such as childhood absence epilepsy inheritance9 auras • Complexes of clinical features, signs, and symptoms that together define a distinctive, recognizable clinical disorder of generalized seizures5 The right genes The Athena Diagnostics team of neurologists and genetic relevant genes to identify a genetic cause. Subpanels are counselors have researched and selected genes associated constructed based on primary phenotype. All 234 genes with primary epilepsy, as well as secondary syndromes known include NGS sequencing, copy number variant analysis, to include seizures. This provides the clinician with the most and chromosomal microarray confirmation if a CNV is found. Tested phenotypes and characterizations Epilepsy Advanced Sequencing and CNV Evaluations Epilepsy Advanced Sequencing and CNV Evaluations 6008 6010 6018 6019 6022 6023 6033 6038 6000 Generalized, Absence, Epileptic Developmental Intellectual Neuronal Ceroid Epilepsy Syndromic Infantile Epilepsy Advanced Focal, Febrile and Encephalopathy Brain Malformations Disability Lipofuscinosis with Migraine Disorders Spasms Sequencing and CNV Myoclonic Epilepsies Evaluation 84 genes 67 genes 40 genes 56 genes 13 genes 7 genes 31 genes 16 genes 234 genes • Myoclonic seizures • High probability of encephalopathic • Severe cognitive deficits and epilepsy • Clinical and EEG spectrum of seizure • Mental and motor • Epilepsy and/or migraine that • Variable and complex • Clusters of epileptic flexor/ • May include nonspecific • Absence seizures (“Petit Mal”) features that present or worsen after recognized primarily in childhood types range from fever-induced deterioration can precede or succeed each phenotypes that include extensor spasms with ictal phenotypes epilepsy onset seizures only, to recalcitrant other or occur simultaneously epilepsy11 electrodecrement • Tonic seizures • Brain malformations observed on • Epilepsy • Characteristics can • Developmental delay or regression neuroimaging hypsarrhythmia-associated seizures • Predisposition for epilepsy: • Age of onset usually before include those in the 8 • Clonic seizures • Visual loss relative to same-age peers 6 • Seizures accompany but do not cause EEG can measure pre- 1 year subpanels listed • Microcephaly • Ataxia • Tonic-clonic seizures (“Grand Mal”) • Often pharmaco-resistant5 developmental delay disposition for seizures • West syndrome (infantile • Accumulation of and show lack of habituation • Atonic seizures • May occur at any age but most common • May be de novo or have X-linked spasms, hypsarrhythmia, 7,8 autofluorescent storage for migraine • Febrile seizures and severe in infancy and early inheritance pattern developmental delay) material upon tissue biopsy • Repeated episodes of • Focal seizures childhood, when global and profound • May be accompanied by cognitive impairment may occur • Variable age of onset, from paroxysmal events, e.g.: cognitive impairment, autism, • Electroclinical syndromes congenital to adult seizures or headache, often and movement disorders4 characterized by recognizable entities • Mostly autosomal recessive preceded by prodromes and/or 10 such as childhood absence epilepsy inheritance9 auras • Complexes of clinical features, signs, and symptoms that together define a distinctive, recognizable clinical disorder of generalized seizures5 Comprehensive services and solutions that go beyond results A team of medical experts Convenient preauthorization services We have developed a staff of board­certified geneticists Preauthorization for in­network orders eases
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