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.

Exome Options:

1.  Standard Research Exome

  • Roche - Nimblegen SeqCap EZ Human Exome Library v3.0 (64Mb)
  • 100bp paired-end sequencing on Illumina HiSeq2000 or 2500
  • Ambry is partnering with Ingenuity to deliver human DNA sequencing samples via Ingenuity best in class Variant Analysis platform for the fast and effective annotation, filtration and identification and prioritization of potentially causal or driver variants. Ambry customers will receive one month no charge access to the Ingenuity platform and unlimited analysis and sharing of samples during this initial term.  Click here for more details: Link to Ingenuity Web Site 
     
Samples Per Lane On Target Coverage Price Per Sample
4 30x $999.00
3 50x $1,199.00
2 80x $1,900.00

 

  • Testing performed via Genomic Services
  • Technical processes occur in our genomics lab
  • Any customized deliverables desired available
  • Ambry can perform exome capture and sequencing using any exome kit currently on the market (i.e. Agilent SureSelectXT V5, Illumina Truseq Exome, etc), however, additional charges will apply.

 

2.  CLIA Exome sequencing

  • $3500.00/sample
  • Advanced Bioinformatics included using our highly sophisticated, custom Ambry Variant Analyzer (AVA) bioinformatics software that allows identification of causative mutations
  • Minimum batch size is 2 samples
  • Testing performed via Genomic Services
  • All technical processes occur in our CLIA lab
  • 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

 

3.  Clinical Diagnostic Exome

  • Testing performed via Ambry’s Clinical Laboratory (CLIA lab)
  • Advanced Bioinformatics included using our highly sophisticated, custom Ambry Variant Analyzer (AVA) bioinformatics software that allows identification of causative mutations
  • Data is reviewed by a medical director
  • Candidate mutation list included on final report for patient chart