Next Generation Sequencing PanelsNew 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
Autism Spectrum Disorders Panel: 60 Genes
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%).
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
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
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.
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.
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.