Next Generation Sequencing Panels
New and Updated Gene Panels at Emory Genetics Laboratory (EGL)
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.

New and Updated EGL Panels
Panel Name
# of Genes on Panel
Autism Spectrum Disorders
Brain Malformations
Comprehensive Cardiovascular
 - Arrhythmias 29
 - Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 7
 - Brugada Syndrome 8
 - Comprehensive Cardiomyopathy 63
 - Dilated Cardiomyopathy 38
 - Hypertrophic Cardiomyopathy 19
 - Long and Short QT Syndrome 12
 - Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection, and Related Disorders 16
 - Pulmonary Arterial Hypertension 5
 - Sudden Cardiac Arrest 10
Cerebral Cavernous Malformation
Ciliopathies 112
Congenital Disorders of Glycosylation 67
Congenital Myasthenic Syndromes 11
Connective Tissue Disorders
Cornelia de Lange Syndrome
ELN-related Disorders
Endocrine Disorders
Epilepsy and Seizure Disorders 108
Eye Disorders 208
 - Achromatopsia, Cone, and Cone-rod Dystrophy 36
 - Albinism 5
 - 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
 - Retinitis Pigmentosa 66
 - Senior-Loken Syndrome 7
 - Stickler Syndrome 5
 - Usher Syndrome
 - Vitreoretinopathy 9
Glycogen Storage Disorders: Comprehensive
 - Glycogen Storage Disorders: Liver 11
 - Glycogen Storage Disorders: Muscle 12
Hearing Loss 92
Hereditary Cancer Syndrome 45
 - Brain, CNS, and PNS Cancer
 - Breast and Ovarian Cancer
 - Endocrine Cancer
 - Gastrointestinal and Colorectal Cancer
 - High Risk Breast Cancer
 - High Risk Colorectal Cancer
 - Melanoma
 - Pancreatic Cancer
 - Pheochromocytoma-Paraganglioma
 - Renal Cancer
 - Wilms Tumor
Hereditary Hemorrhagic Telangiectasia
Hereditary Neuropathies
Hereditary Periodic Fever Syndromes 7
Hyper IgE
Hypohidrotic Ectodermal Dysplasia
Inflammatory Bowel Disease 48
Inherited Metabolic Disorders
Lysosomal Storage Disorders 55
Maturity Onset Diabetes of the Young 4
Mitochondrial Diseases
Multiple Epiphyseal Dysplasia 7
Neonatal and Adult Cholestasis
Neurological Disorders
Neuromuscular Disorders- Expanded
 - Congenital Muscular Dystrophy 24
 - Limb-Girdle Muscular Dystrophy 22
 - Neuromuscular Disorders 46
Noonan Syndrome and Related Disorders 13
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 14
Pulmonary Disease
 - Bronchiectasis
 - Congenital Central Hypoventilation Syndrome
 - Cystic Lung Disease
 - Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
Severe Combined Immunodeficiency (SCID) B+/B- 21
 - Severe Combined Immunodeficiency (SCID) B+
 - Severe Combined Immunodeficiency (SCID) B- 7
Short Stature Panel
Skeletal Dysplasia 163
  - Disproportionate Short Stature 77
  - Limb Malformation 46
  - Osteogenesis Imperfecta and Decreased Bone Density 34
  - Skeletal Dysplasia With Increased Bone Density 22
Targeted Tumor Mutation 26
 - Targeted Colorectal Tumor Mutation 13
 - Targeted Gastric Tumor Mutation 7
 - Targeted Lung Tumor Mutation 12
 - Targeted Melanoma Mutation 8
 - Targeted Ovarian Tumor Mutation 7
Tuberous Sclerosis
X-linked Intellectual Disability 91

Autism Spectrum Disorders Panel: 60 Genes

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders which include autism, pervasive developmental delay-not otherwise specified (PDD-NOS), and Asperger syndrome. ASDs are characterized by impairments in social relationships, variable degrees of language and communication deficits, and repetitive behaviors and/or a narrow range of interests. The age of onset is prior to age 3 with a variable clinical presentation, ranging in severity both amongst individuals as well as amongst the various subtypes of ASDs. Additional clinical features may also be observed in individuals with an ASD, such as intellectual disability (up to ~50%) and seizures (~25%).

Known genetic causes of autism include cytogenetically visible chromosome abnormalities (3-5%), copy number variants – which include submicroscopic deletions and duplications (~6-7%), and single gene disorders (~5%).

Emory Genetics Laboratory’s (EGL) integrated testing strategy allows for a comprehensive cytogenetic, metabolic, and molecular analysis of ASD in your patient. 

EGL’s next generation sequencing autism panel includes simultaneous analysis of 60 genes that target genetic syndromes that display autism or autistic features as part of the clinical profile, genes that have been associated with non-syndromic autism, and genes associated with conditions involved in the differential diagnosis of Rett syndrome and/or Angelman syndrome.

Click on the test name to learn more:

Cardiomyopathy Panel: 93 Genes

Cardiomyopathies can occur as part of a clinical spectrum that is associated with a particular genetic syndrome, such as Duchenne/Becker muscular dystrophy and Pompe disease, or as an isolated finding. Cardiomyopathies can be inherited in autosomal dominant, autosomal recessive, X-linked, and mitochondrial manners. Cardiomyopathies exhibit clinical variability and mutations in a single gene may cause different phenotypes. The 93-gene Cardiomyopathies NGS panel tests genes related to the following disorders: dilated cardiomyopathy, restrictive cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy, left ventricular noncompaction, and catecholaminergic polymorphic ventricular tachycardia.

Ciliopathies Panel: 112 Genes

The ciliopathies are a group of disorders caused by mutations in genes that encode proteins involved in the formation and function of cilia. There are 112 genes on the ciliopathies panel. Diseases tested by the panel include primary ciliary dyskinesia, nephronophthisis, Senior-Loken syndrome, Leber congenital amaurosis, Meckel-Gruber syndrome, Joubert and related syndromes, Bardet-Biedl syndrome, and many others.

Congenital Disorders of Glycosylation Panels: 66 Genes

Congenital disorders of glycosylation (CDG) are a group of genetic disorders caused by the alteration in synthesis and structure of protein and lipid glycosylation. In the past decade, over 30 genetic diseases have been identified that alter glycan synthesis, structure, and function of nearly all organ systems. Phenotypes of these disorders are extremely variable. Manifestations range from severe developmental delay and hypotonia with multiple organ system involvement beginning in infancy, to hypoglycemia and protein-losing enteropathy with normal development. Most CDG subtypes have been described in only a few individuals, therefore an understanding of many CDG phenotypes is limited.

EGL offers four biochemical assays for diagnosis of a broad spectrum of CDG subtypes including transferrin, N-glycan and O-glycan profiles in serum and plasma as well as oligosaccharide free glycan profile in urine.

EGL offers a Next Generation CDG sequencing panel that includes simultaneous analysis of 66 genes known to cause CDG, allowing for efficient and informative diagnosis.

The combination of biochemical and molecular testing provides a powerful and efficient diagnostic tool for the diagnosis of CDGs.

Epilepsy Panel: 108 Genes

Epilepsy has a prevalence of about 5-10 per 1000 people. While the causes of epilepsy are diverse, a significant proportion are considered to be genetic in origin. Epilepsy can occur as part of a clinical spectrum that is associated with a particular genetic syndrome, or as an isolated finding, 40% of which are believed to be due to genetic causes. The Epilepsy Panel includes 108 genes testing for syndromic and non-syndromic causes of epilepsy.

Eye Disorders: 205 Genes

The Eye Disorder Panel is a comprehensive 205-gene panel including genes causing ocular developmental disorders and almost all genes causing inherited retinal and choroidal dystrophies. The range of genetic and phenotypic heterogeneity in retinal disorders makes accurate clinical diagnosis difficult especially during early phases of the disease onset.
Neuromuscular Disorders: 46 Genes

The comprehensive next generation sequencing panel for neuromuscular disorders includes testing for adenosine monophosphate deaminase deficiency, congenital muscular dystrophy, Duchenne/Becker Muscular Dystrophy, Limb-Girdle muscular dystrophy and Nemaline myopathy.

EGL offers a comprehensive 46-gene NGS and deletion/duplication panel, with subpanels available when a phenotype suggests a specific disease group, such as Limb-Girdle muscular dystrophy or congenital muscular dystrophy.

Click on the test name to learn more about the Neuromuscular Subpanels:

Noonan Syndrome & Related Disorders Panel: 12 Genes

The Noonan Syndrome and Related Disorders panel is a 12-gene panel with the following conditions included: Noonan syndrome, LEOPARD syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome and Noonan-like syndrome with loose anagen hair.
Proportionate Short Stature Panel: 40 Genes

Short stature due to genetic causes can be an isolated finding or part of the clinical spectrum of a genetic syndrome. The short stature panel is comprised of three separate tests designed to diagnose the most common causes of short stature: the EmArray Cyto + SNP detecting chromosome abnormalities, deletions, duplications and uniparental disomy, a 40-gene next generation sequencing panel testing for syndromic and non-syndromic causes of short stature, and the Russell Silver panel (H19 methylation and UPD7).

Click on the test name to learn more:

X-Linked Intellectual Disability Panel: 92 Genes

Intellectual disability (ID) is a non-progressive cognitive impairment affecting 2 to 3% of the Western population. It is estimated that up to 25-30% of ID can be attributed to a genetic cause, of which approximately one quarter is due to X-linked intellectual disabilities (XLID).

Fragile X is the most common XLID syndrome (~1 in 4000 males) while other syndromes are quite rare with only a few patients reported in the literature. Males can have moderate to severe intellectual disability depending on the syndrome, and carrier females can also be affected, but typically have milder clinical symptoms.

As the majority of XLID conditions are non-syndromic, it is difficult to target individual genes for analysis in an efficient and cost effective manner.  Current diagnostic testing of XLID conditions typically involves only a few XLID genes, using time-consuming and expensive sequential pathways.

EGL offers a Next Generation XLID sequencing panel that includes simultaneous analysis of 92 genes that have clear associations with X-linked intellectual disability.

Reference: Piton A, Redin C, Mandel JL. XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing. The American Journal of Human Genetics. 2013; 93:1–16.

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