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EmExome:
Whole Exome Sequencing

Three levels of service
Interactive variant classification tool
Sanger confirmation of clinically actionable changes

Click here to learn more about EGL's EmExome services

Autism Spectrum Disorders and Genetic Testing

Approximately 15-20% of individuals with an Autism Spectrum Disorder are estimated to have an identifiable genetic cause.

Click here to learn more about the genetics of ASD and the current testing available

Neuromuscular Disorders

EGL offers the most comprehensive suite of genetic testing for neuromuscular disorders available.

Click here to read about EGL's menu of neuromuscular tests, including extensive testing options for CMD, DMD, LGMD and Rhabdomyolysis

Congenital Disorders of Glycosylation

CDG are a group of genetic disorders caused by the alteration in synthesis and structure of protein and lipid glycosylation.

Click here to view EGL's CDG testing pathway and learn more about the recommended biochemical and molecular testing options

Eye Disorders

EGL offers the most comprehensive eye disease panel, which allows for the simultaneous analysis of more than 135 genes.

Click here to learn more about the testing options.

Next Generation Sequencing Panels

Autism Spectrum Disorders
Cardiomyopathy
Ciliopathies
Congenital Disorders of Glycosylation
Epilepsy
Eye Disorders
Neuromuscular Disorders
Noonan Syndrome
Short Stature
X-Linked Intellectual Disability

Click here to learn more about the available panels
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