EGL Genetics Blog

Exome Del/Dup Analysis: What You Are Not Analyzing May Hold the Answer

Posted by Eleina Cox on Jun 16, 2016 11:00:00 AM

Exome sequencing is a recent addition to the routine clinical genetic testing. This technology allows for the simultaneous testing of thousands of genes; making it essentially the largest multi-gene panel available. The diagnostic detection rate for exome sequencing has been reported as 25-30%, by clinical genetics laboratories. But what can be done for those patients who did not find an answer via exome sequencing? Those remaining 70-75% of individuals, along with their clinicians, must wonder, “so what now?” 

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Topics: genetic testing, exome sequencing, Medical EmExome, Deletion/duplication

Video: EGL Medical EmExome: Clinical Exome Sequencing

Posted by Wendy Sheats on Jan 28, 2016 11:00:00 AM

Medical EmExome: Clinical Exome Sequencing

The Medical EmExome is the result of a multi-center collaboration between Emory University, Harvard University, and Children’s Healthcare of Philadelphia. With more than 45 years of clinical experience, EGL is truly an expert in clinical genetics diagnostic testing and variant classification.

Check out the video below for more information on EGL's Medical EmExome as well as insight into incorporating exome sequencing into clinical practice.

 

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Topics: genetic testing, exome sequencing, Medical EmExome

Single Gene, Panels or Exome...How do I choose?

Posted by Wendy Sheats on Jan 21, 2016 11:00:00 AM
There are many testing options to choose from when trying to identify or confirm a genetic condition. The ideal test type for your patient will be determined by various factors including: clinical findings, cost, turnaround time, and why testing is being performed.
 
This blog will help you work through the different options available.
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Topics: exome sequencing, Medical EmExome

A Clinician's Guide to EGL's Medical EmExome

Posted by Wendy Sheats on Jan 14, 2016 11:27:56 AM

Exome sequencing represents a newer testing strategy for diagnosing patients with genetic disorders. The Medical EmExome offered by EGL is the next level of clinical exome sequencing. This guide is meant to answer frequently asked questions about exome sequencing, the Medical EmExome, as well as provide insight into incorporating exome sequencing into clinical practice.

Click Here to Download

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Topics: exome sequencing, Medical EmExome

Join Us For An Educational Webinar on EGL's Medical EmExome

Posted by Wendy Sheats on Jan 7, 2016 11:06:00 AM

Click Here to Register  <http://info.geneticslab.emory.edu/webinar-medical-emexome-a-new-strategy-for-diagnosing-patients-with-genetic-disordors>

Registration will close 1-hour prior to the webinar.

Please join us for this 1-hour discussion of EGL's Medical EmExome.

The purpose of this webinar is to answer frequently ask questions about clinical exome sequencing like:

  • What is the Medical EmExome?
  • When to choose the Medical EmExome?
  • What is the differences between trios analysis vs proband only analysis?
  • How to order Medical EmExome testing?

We will also discuss interesting EmExome cases which highlight successes and limitations of clinical exome sequencing.

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Topics: exome sequencing, Medical EmExome

 

 

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