Exome Sequencing

Sirona Dx CLIA Laboratory is a Life Technologies certified service provider for Ion Ampliseq Exome Sequencing. This certification indicates that the sequencing data generated by our laboratory meets a high quality standard. Using the Ion Proton platform and its straightforward technical approach also allows for a rapid turnaround time.

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Recent advances in next generation sequencing have enabled scientists to explore massive quanities of genomic data. The exome represents only one percent of the total human genome, however the majority of disease-causing mutations are found within this region.

 

The Sirona Dx services for the Ion Ampliseq Exome include:

  • Coverage of 58Mb including 33Mb of exonic DNA representing >97% of known coding regions;
  • Suitable for samples with low DNA concentrations, requiring only 50ng input DNA;
  • Basic data analysis includes production of aligned reads and a list of annotated variants;
  • Custom bioinformatics analysis available to address additional needs.

Potential applications for exome sequencing:

Exome sequencing has enhanced our understanding of the role of genetics in disease leading to a more personalized approach to medicine.

Key areas where exome sequencing is transforming clinical research include:

  • Enhancing knowledge of the genomic mutations involved in the progression of various types of cancers;
  • Understanding why individuals have different responses to pharmaceuticals and predicting personalized treatment regimens that will most effectively meet the needs of patients;
  • Investigating the genetic basis of complex diseases including Alzheimer's, autism, multiple sclerosis, diabetes, and other polygenic disorders;
  • Diagnosis of rare genetic disorders