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Exome Sequencing

The Genomic Medicine Center began offering exome sequencing in March 2016. We implemented clinical exomes with the goal to identify genetic variations responsible for diseases without the higher costs associated with whole-genome sequencing. Exome sequencing allows us to find a molecular diagnosis in families with children who have had an extensive negative work-up for a genetic disease. We also use exome sequencing to identify novel disease genes and to confirm disease-causing protein variants. 


The exome sequencing process


Exome sequencing is a technique for sequencing expressed genes in a genome. It consists of first selecting only the subset of DNA that encodes proteins (known as exons) and then sequencing that DNA. Illumina technology is used in the Genome Center to sequence this DNA. 

Our laboratory offers exome sequencing on both clinical and research basis. The clinical test menu currently consists of Comprehensive Symptom-driven exome panels based upon the patient’s phenotype. These are performed on the affected child and both parents or two affected children and at least one parent. Other tests include Macrocephaly panel, Noonan Syndrome and select panels consisting of 2-5 genes. Single gene sequencing is also available. 

For more information about exome sequencing, please contact (816) 701-4819 or email us.