Exome Sequencing

The selective capture and sequencing of coding regions in the genome is a powerful 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.

Ambry was the first company to offer CLIA-approved whole exome sequencing for clinical diagnostics in 2011. In addition, our highly sophisticated, custom Ambry Variant Analyzer (AVA) bioinformatics software allows our clients to identify causative mutations in their samples. We offer a wide variety of exome capture platforms including Agilent SureSelect Exome, Roche NimbleGen SeqCap EZ Exome and Illumina TruSeq Exome enrichments.

Exome Options:

1. Research exome sequencing
  • Testing performed via Genomic Services
  • Technical processes occur in our genomics lab 
  • Any customized deliverables desired available
  • Available for all Agilent, Roche and Illumina exome enrichment platforms
2. CLIA Exome services
  • Testing performed via Genomic Services
  • All technical processes occur in our CLIA lab and are filtered through our bioinformatics pipeline
  • We can customize the bioinformatics deliverables and provide raw sequence files or custom reports if desired 
  • No medical director review and no final report for the patient’s chart
  • Available for Agilent exome enrichment platform
3. Clinical Diagnostic Exome sequencing
  • Testing performed via Ambry’s Clinical Laboratory (CLIA lab)
  • Filtered through our bioinformatics pipeline, & filtered mutations reviewed by a medical director
  • Candidate mutation list included on final report for patient chart 
  • Available for Agilent exome enrichment platform