EGL has updated its multi-gene, evidence-based next generation sequencing panels and has launched several new panels to provide additional diagnostic options for dozens of common and rare genetic disorders. These updates are based on a thorough evidence-based review of peer-reviewed literature and consultation with clinicians.

Genetically heterogeneous disorders are challenging to diagnose due to overlapping, non-specific features that make targeting a specific gene difficult or impossible. Molecular confirmation of a clinical diagnosis may: identify the associated health conditions for which an individual should be monitored; guide proper therapeutic interventions; and reduce healthcare costs by preventing a lengthy diagnostic odyssey. In addition, identification of pathogenic variants allows for appropriate recurrence risk counseling of prenatal and/or pre-implantation diagnostic options.

EGL Gene Panels feature complete coverage of all coding exons and mutation spectrum (point mutation, small and large intragenic deletions/duplications) in clinically relevant genes for a particular phenotype. This reduces the incidence of variants of unknown clinical significance and incidental findings, and eases the delivery of results to patients, thereby shortening the time needed for counseling. The new and updated panels below represent a cost-effective option to provide a molecular diagnosis.

Panel Name
# of Genes on Panel
Autism Spectrum Disorders 63
Brain Malformations 50
Comprehensive Cardiovascular 117
 - Arrhythmias 37
 - Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
 - Brugada Syndrome 8
 - Comprehensive Cardiomyopathy 65
 - Dilated Cardiomyopathy 39
 - Hypertrophic Cardiomyopathy 20
 - Long and Short QT Syndrome 13
 - Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection, and Related Disorders 17
 - Pulmonary Hypertension 8
 - Sudden Cardiac Arrest 11
Cerebral Cavernous Malformation  3
Ciliopathies 112
Congenital Disorders of Glycosylation 66
Congenital Myasthenic Syndromes 11
Connective Tissue Disorders 29
Cornelia de Lange Syndrome 5
Cystic Fibrosis 1
Dystonia 80
Endocrine Disorders 57
Epilepsy and Seizure Disorders 110
Eye Disorders 210
 - Achromatopsia, Cone, and Cone-rod Dystrophy 36
 - Albinism 7
 - Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly 23
 - Bardet-Biedl Syndrome 18
 - Congenital Stationary Night Blindness 15
 - Flecked-retina Disorders 6
 - Joubert Syndrome 18
 - Leber Congenital Amaurosis 23
 - Macular Dystrophy/Degeneration/Stargardt Disease 15
 - Neuronal Ceroid-Lipofuscinoses 11
 - Optic Atrophy 5
 - Retina/Photoreceptor Dystrophy 121
 - Retinitis Pigmentosa 66
 - Senior-Loken Syndrome 7
 - Stickler Syndrome 5
 - Usher Syndrome 12
 - Vitreoretinopathy 9
Glycogen Storage Disorders: Comprehensive 20
 - Glycogen Storage Disorders: Liver 11
 - Glycogen Storage Disorders: Muscle 12
Hearing Loss 91
Hereditary Cancer Syndrome 60
 - Brain, CNS, and PNS Cancer  16
 - Breast and Ovarian Cancer 24
 - Endocrine Cancer 15
 - Gastrointestinal and Colorectal Cancer 19
 - High Risk Breast Cancer 7
 - High Risk Colorectal Cancer 15
 - Melanoma 11
 - Pancreatic Cancer 14
 - Paraganglioma-Pheochromocytoma 9
 - Renal Cancer 23
 - Wilms Tumor 2
Hereditary Hemorrhagic Telangiectasia 5
Hereditary Neuropathies 90
Hereditary Periodic Fever Syndromes 7
Hypercholesterolemia 24
Hyper IgE 4
Hypohidrotic Ectodermal Dysplasia 3
Inflammatory Bowel Disease 26
Inherited Metabolic Disorders 103
Interstitial Lung Disease 7
Lysosomal Storage Disorders 55
Macrocephaly 12
Maturity Onset Diabetes of the Young 4
Mitochondrial Diseases 44
Multiple Epiphyseal Dysplasia 7
Neonatal and Adult Cholestasis 57
Neurological Disorders 167
Neuromuscular Disorders- Expanded 79
 - Congenital Muscular Dystrophy 24
 - Limb-Girdle Muscular Dystrophy 23
 - Neuromuscular Disorders 46
Noonan Syndrome and Related Disorders 13
Peroxisome Disorders 27
Pulmonary Disease 52
 - Bronchiectasis 16
 - Congenital Central Hypoventilation Syndrome 7
 - Cystic Lung Disease 8
 - Pulmonary Fibrosis and Hermansky-Pudlak Syndrome 16
Severe Combined Immunodeficiency (SCID) B+/B- 21
 - Severe Combined Immunodeficiency (SCID) B+ 14
 - Severe Combined Immunodeficiency (SCID) B- 7
Short Stature Panel 44
Skeletal Dysplasia 173
  - Disproportionate Short Stature 85
  - Limb Malformation 46
  - Osteogenesis Imperfecta and Decreased Bone Density 36
  - Skeletal Dysplasia With Increased Bone Density 22
Steroid-resistant Nephrotic Syndrome 27
Tuberous Sclerosis 2
X-linked Intellectual Disability 91

New and Updated Gene Panels

Industry-leading number of gene panels

EGL Next Generation Sequencing Panels include comprehensive, evidence-based gene lists, improved turnaround times, and reduced pricing.