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

 

 

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