Exome Sequencing

The selective capture and sequencing of coding regions in the genome is a powerful and cost effective tool for researchers wanting to identify disease-causing mutations. Ambry Genetics has extensive experience with exome sequencing in both a research and clinical setting.

As early adopters of NGS technology and advanced target enrichment techniques, Ambry’s experience and knowledge is hard to beat.  Ambry was the 3rd Certified Service Provider (CSPro) lab in the world for Illumina NGS sequencing and 1st in the world for Agilent SureSelect Target Enrichment.  In addition, Ambry was a beta tester for the first human Exome capture kit available on the market (Roche-NimbleGen Human Exome kit).  In 2011, Ambry was the first company to offer CLIA-approved Whole Exome Sequencing for clinical diagnostics.

Ambry Offers:

  • Exome capture and sequencing using any Exome kit currently on the market (i.e. Roche, NimbleGen, Agilent, Illumina, etc.), however, additional charges may apply.
  • 100bp paired-end sequencing on Illumina HiSeq2500.
  • Standard deliverables including all QC data with hg19 alignment and a customized variant report.
  • Optional deliverables with additional charge including:
            - Advanced Bioinformatics using our highly sophisticated,
               custom Ambry Variant Analyzer (AVA) bioinformatics
               software that allows identification causative mutations.
            - Processing samples via Ambry’s Clinical Laboratory (CLIA lab) and data review by medical director.
  • Any customized deliverables desired.
  • ExomeNext Interactive Gene Coverage Tool - this comprehensive tool allows you to search the coverage for individual genes on ExomeNext

Test requisition and sample requirements

Additional information on Ambry's Exome sequencing experience:

ExomeNext Research Fact Sheet
ExomeNext Whitepaper
ExomeNext Webinar: The New Generation of Diagnostic Exome Sequencing