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GENETIC TESTING SOLUTIONS FOR: NEUROLOGY, NEUROMUSCULAR, AND CARDIOLOGY DISORDERS EGL Genetics has nearly 50 years of genetic testing history built upon a strong academic foundation. Our expertise spans common and rare genetic disease testing, genomic variant interpretation, test development and research. As we have grown, we have evolved into a high-science and high-performing CLIA-certifi ed and CAP-accredited laboratory with over 1,100 test offerings across biochemical genetics, cytogenetics, and molecular genetic testing. COMPREHENSIVE OFFERINGS There are signifi cant genetic and phenotypic heterogeneity for disorders involving neurology, neuromuscular, and cardiovascular systems, and obtaining a specifi c diagnosis is important for prognosis, patient management, and development of therapeutic strategies. Consider this collection of test offerings for patients with heart disease, intellectual disability, autism spectrum disorders, movement disorders, epilepsy, and more. Identifi cation of a causative genetic defect may provide information for prognosis and therapeutic intervention, and is required for carrier testing and early prenatal diagnosis. TEST OFFERINGS FOR THE FOLLOWING CLINICAL INDICATIONS: • Cardiomyopathy and cardiovascular diseases • Autism and intellectual disabilities • Neuromuscular disorders and muscular dystrophy • Epilepsy • Movement disorders ADVANTAGES OF PARTNERING WITH EGL GENETICS: • Board-certifi ed laboratory directors & genetic counselors to answer clinical and analytical questions • Multiple sample collection options for DNA-based tests. Contact us to determine which collection option is best for your patient • Customizable NGS panels with add-on genes available upon request for no additional charge • Commitment to accurate sequence variant classifi cation: Free targeted parental testing for up to two variants of unknown signifi cance following proband only testing, plus complementary periodic variant review and report updates, variant database publicly available, and open data sharing via ClinVar • Competitive turnaround times for all testing with expedited testing when clinically indicated • Client portal for convenient result delivery • Billing experts & insurance specialists available to assist with pricing, payments, insurance coverage, prior-authorizations, and more 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 NEUROLOGY DISEASE TEST CODE TEST NAME Autism BB021 Autism Spectrum Disorders: Tier 1 Biochemical Panel* Autism MM021 Autism Spectrum Disorders: Tier 2 Sequencing Panel Autism MD021 Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Brain Malformations MM250 Brain Malformations: Sequencing Panel Brain Malformations MD250 Brain Malformations: Deletion/Duplication Panel Brain Malformations MM136 Joubert Syndrome: Sequencing Panel Brain Malformations MD136 Joubert Syndrome: Deletion/Duplication Panel Congenital Hypoventilation Syndrome MM244 Congenital Central Hypoventilation Syndrome: Sequencing Panel Dystonia MM550 Dystonia: Sequencing Panel Epilepsy MEPI1 Epilepsy and Seizure Disorders: Sequencing Panel Epilepsy DEPI1 Epilepsy and Seizure Disorders: Deletion/Duplication Panel Epilepsy SSCN1 SCN1A-related Disorders: SCN1A Gene Sequencing Epilepsy DSCN1 SCN1A-related Disorders: SCN1A Gene Deletion/Duplication Intellectual Disability Syndromes MKABP Kabuki Syndrome: KMT2D and KDM6A Sequencing Panel Intellectual Disability Syndromes DKABP Kabuki Syndrome: KMT2D and KDM6A Deletion/Duplication Panel Intellectual Disability Syndromes MM670 Mabry Syndrome: Sequencing Panel Intellectual Disability Syndromes MM460 Cornelia de Lange Syndrome: Sequencing Panel Intellectual Disability Syndromes MD460 Cornelia de Lange Syndrome: Deletion/Duplication Panel Mitochondrial Disease MM300 Mitochondrial Diseases - Nuclear Genes Only: Sequencing Panel Mitochondrial Disease MD300 Mitochondrial Diseases - Nuclear Genes Only: Deletion/Duplication Panel Mitochondrial Disease QA Mitochondrial Encephalomyopathy: Lactic Acidosis (Stroke-like Episodes/MELAS) Mitochondrial Disease JD Mitochondrial Genome: Sequencing Mitochondrial Disease QH Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF): Targeted Mutation Analysis Movement Disorders FJ Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis Movement Disorders HT Huntington Disease: CAG Repeat Analysis Neuronal Ceroid-Lipofuscinoses MM231 Neuronal Ceroid-Lipofuscinoses: Sequencing Panel Neuronal Ceroid-Lipofuscinoses MD231 Neuronal Ceroid-Lipofuscinoses: Deletion/Duplication Panel Neuropathy MM350 Hereditary Neuropathies: Sequencing Panel Neuropathy MD350 Hereditary Neuropathies: Deletion/Duplication Panel Peroxisomal disorders UE X-linked Adrenoleukodystrophy: ABCD1 Gene Sequencing Peroxisomal disorders DABCD X-linked Adrenoleukodystrophy: ABCD1 Gene Deletion/Duplication X-linked Intellectual Disability MXLI1 X-linked Intellectual Disability: Sequencing Panel X-linked Intellectual Disability DXLI1 X-linked Intellectual Disability: Deletion/Duplication Panel X-linked Intellectual Disability MFRAX Fragile X: CGG Repeat Analysis X-linked Intellectual Disability SFMR1 Fragile X: FMR1 Gene Sequencing *Biochemical test offering 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 NEUROLOGY DISEASE TEST CODE TEST NAME X-linked Intellectual Disability RM Lesch-Nyhan Syndrome: HPRT1 Gene Sequencing X-linked Intellectual Disability RN Lesch-Nyhan Syndrome: HPRT1 Gene Deletion/Duplication X-linked Intellectual Disability RO Lowe Syndrome: OCRL Gene Sequencing X-linked Intellectual Disability RP Lowe Syndrome: OCRL Gene Deletion/Duplication X-linked Intellectual Disability RZ Menkes Disease: ATP7A Gene Sequencing X-linked Intellectual Disability SJ Menkes Disease: ATP7A Gene Deletion/Duplication X-linked Intellectual Disability YL Norrie Disease: NDP Gene Sequencing X-linked Intellectual Disability YM Norrie Disease: NDP Gene Deletion/Duplication X-linked Intellectual Disability SR Rett Syndrome: MECP2 Gene Sequencing X-linked Intellectual Disability KT Rett Syndrome: MECP2 Gene Deletion/Duplication X-linked Intellectual Disability RQ Pelizaeus-Merzbacher Disease: PLP1 Gene Sequencing X-linked Intellectual Disability RR Pelizaeus-Merzbacher Disease: PLP1 Gene Deletion/Duplication X-linked Intellectual Disability SL1CA X-linked Hydrocephalus with Aqueductal Stenosis: L1CAM Gene Sequencing X-linked Intellectual Disability DL1CA X-linked Hydrocephalus with Aqueductal Stenosis: L1CAM Gene Deletion/Duplication NEUROMUSCULAR DISEASES DISEASE TEST CODE TEST NAME Congenital Myasthenic Syndrome MM110 Congenital Myasthenic Syndromes: Sequencing Panel Congenital Myasthenic Syndrome MD110 Congenital Myasthenic Syndromes: Deletion/Duplication Panel Hypotonia HY Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14 Hypotonia SM Spinal Muscular Atrophy: SMN1 Common Deletion Testing Muscular Dystrophy MM211 Congenital Muscular Dystrophy: Sequencing Panel Muscular Dystrophy MD211 Congenital Muscular Dystrophy: Deletion/Duplication Panel Muscular Dystrophy EE Duchenne/Becker Muscular Dystrophy: DMD Gene Sequencing Muscular Dystrophy EG Duchenne/Becker Muscular Dystrophy: DMD Gene Deletion/Duplication Muscular Dystrophy SDYSF Limb-Girdle Muscular Dystrophy (LGMD) Type 2B: DYSF Gene Sequencing Muscular Dystrophy DDYSF Limb-Girdle Muscular Dystrophy (LGMD) Type 2B: DYSF Gene Deletion/Duplication Muscular Dystrophy MM212 Limb-Girdle Muscular Dystrophy: Sequencing Panel Muscular Dystrophy MD212 Limb-Girdle Muscular Dystrophy: Deletion/Duplication Panel Muscular Dystrophy MD Myotonic Dystrophy: CTG Repeat Analysis Muscular Dystrophy MPABP Oculopharyngeal Muscular Dystrophy (OPMD): PABPN1 GCN Repeat Analysis 2460 Mountain Industrial Boulevard Tucker, GA 30084 egl-eurofi ns.com | 855-831-7447 NEUROMUSCULAR DISEASES DISEASE TEST CODE TEST NAME Myopathy SRYR1 RYR1-related Disorders: RYR1 Gene Sequencing Myopathy DRYR1 RYR1-related Disorders: RYR1 Gene Deletion/Duplication Neuromuscular Disorders MM360 Expanded Neuromuscular Disorders: Sequencing Panel Neuromuscular Disorders MD360 Expanded Neuromuscular Disorders: Deletion/Duplication Panel Neuromuscular Disorders MNEU1 Neuromuscular Disorders: Sequencing Panel Neuromuscular Disorders DNEU1 Neuromuscular Disorders: Deletion/Duplication Panel Rhabdomyolysis SAMPD Adenosine Monophosphate Deaminase 1 (AMPD1) Defi ciency: AMPD1 Gene Sequencing Rhabdomyolysis DAMPD Adenosine Monophosphate Deaminase 1 (AMPD1) Defi ciency: AMPD1 Gene Deletion/Duplication Rhabdomyolysis MA Glycogen Storage Disease V (McArdle Disease): PYGM Common Mutation Panel Rhabdomyolysis MM650 Rhabdomyolysis: Sequencing Panel CARDIOLOGY DISEASE TEST CODE TEST NAME Arrhythmias MM093 Arrhythmias: Sequencing Panel Arrhythmias MD093 Arrhythmias: Deletion/Duplication Panel Arrhythmias MM094 Long and Short QT Syndromes: Sequencing Panel Arrhythmias MD094 Long and Short QT Syndromes: Deletion/Duplication Panel Cardiomyopathy MM520 Cardiomyopathy: Sequencing Panel Cardiomyopathy MD520 Cardiomyopathy: Deletion/Duplication Panel Cardiomyopathy MM092 Dilated Cardiomyopathy: Sequencing Panel Cardiomyopathy MD092 Dilated Cardiomyopathy: Deletion/Duplication Panel Cardiomyopathy MM091 Hypertrophic Cardiomyopathy: Sequencing Panel Cardiomyopathy MD091 Hypertrophic Cardiomyopathy: Deletion/Duplication Panel Cardiovascular diseases MCIL1 Ciliopathies: Sequencing Panel Cardiovascular diseases DCIL1 Ciliopathies:
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