Super Lab

Press Release: Ambry Genetics Unveils Its Super Lab, One of the Largest, Most State-of-the-Art Commercial Laboratories in the World

Brochure: Super Lab, Superior Technology

SUPERIOR TECHNOLOGY

Experience   

Since 2001, Ambry has performed hundreds of thousands of genetic tests and identified more than 45,000 mutations in more than 500 genes. We are a lab of many “firsts,” and our experience as responsible early adopters positioned us to develop our new highly automated Super Lab. This allows us to continue providing cutting-edge, accurate genetic testing to those of you in numerous clinical specialties, including oncology, cardiology, general genetics, pulmonology, and neurology.

  • Pioneer in next generation sequencing (NGS)
  • Amongst the first to offer clinical NGS with an 81-gene test for X-linked intellectual disability
  • First commercial lab to offer hereditary cancer NGS panels
    • Over 100,000 next generation sequencing (NGS) cancer panels completed
  • First to offer BRCA1/2 analysis by NGS
  • First to offer clinical diagnostic whole exome sequencing

Automation

Our new Super Lab was built and designed to include highly automated processes to increase efficiency and consistency, while reducing the potential for human error.

  • Limited hands-on time
  • Increased consistency and decreased turnaround time for your test results
  • Flexible automated design, for upgrades and scalability without disruption to normal operation
  • 24/7 lab operation protected by one of the largest industrial generators

Validation

Our Laboratory team has studied thousands of samples to determine the ideal balance between sensitivity and specificity to minimize the possibility of false negatives and false positives.

  • Internal validation included 20,000 samples and ~8,000 variants to determine ideal threshold for mutation detection
  • An NGS test advertised as having zero false positives will result in missed mutations in complex genomic regions
    • Our bioinformatics pipeline allows for the lowest possible false positive rate without sacrificing sensitivity.
  • We Sanger confirm suspect NGS findings, ensuring the results you receive are valid and to further minimize false positives

Accuracy

We remain dedicated to providing highly accurate genetic test results. Several additional processes have been implemented in our Super Lab to achieve this for you.

  • DNA fingerprint (a “tag” of unique genetic variants) on each sample before and after testing
    • Significantly reduces chance of sample mix-up
    • Acts as an accuracy check for additional quality control
  • Array and NGS run concurrently for deletion/duplication testing
    • Array used for confirmation of NGS results
    • Helps to control for accuracy and decrease error potential
    • Increases sensitivity
  • Laboratory “zero vibration flooring” built to withstand seismic tremors, reducing error potential

“We believe there is no room for error in the testing we do, and will not sacrifice anything for quality.”
— Aaron Elliott, PhD, Chief Executive Officer

Investigation

Our Laboratory and multidisciplinary Variant Assessment teams are integral to our robust, detailed variant interpretation, and low VUS rates.

  • Dedicated multidisciplinary team for variant interpretation, including MD and PhD laboratory directors, biostatisticians/bioinformaticians, structural biologists, variant scientists, and genetic counselors
    • An expert clinician/scientist reviews all mutations, VUS, and unexpected negatives
  • Historical and ongoing secure data sharing with other labs, researchers, clinicians, and public databases
  • Clinical Research team curates our data for publication, and to share with the scientific and medical communities
  • New variant assessment laboratory
    • Developing validated processes for numerous functional variant assays
    • RNA analysis of intronic variants to determine impact on splicing
    • Collaborating with leaders in the field on a variety of variant classification projects