EGL Genetics Blog

Breaking Down Batten Disease

Posted by Wendy Sheats on Dec 3, 2015 4:56:36 PM

Batten disease, scientifically known as Neuronal Ceroid Lipofuscinoses (NCLs) is characterized by vision loss, seizures, cognitive and motor decline, and early demise. Batten disease is a rare but complicated disorder, therefore we have created a simplified infographic that highlights the clinical spectrum, how it is inherited, and how genetic testing can help patients.

Batten_Disease-3.jpg
Click the links below for more information regarding genetic testing, methodology, detection, specimen requirements and how to order our Neuronal Ceroid-Lipofuscinoses: Sequencing Panel or the Deletion/Duplication Panel.

 

With so many testing options available and the genetic etiology of some neurologic conditions remaining unclear, where does one begin to incorporate genetic testing into the treatment paragidm? Find the answer and so much more in our eBook, Genetic Testing for Neurologic Disorders: A Clinician's Guide.

DOWNLOAD NOW


 References:  

  • Daiger  et al. (1998) Invest Ophthalmol Vis Sci  39:S295.
  • OMIM
  • GeneReviews
  • Emory and Rimoin's Principles and Practice of Medical Genetics, 5th Edition
  • National Institute of Neurological Disorders and Stroke

 

 

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