Unparalleled Accuracy
We never lose sight of the fact that there is a human life attached to every sample and every result. From the time the sample comes in our doors until the report leaves, we follow advanced laboratory procedures and ensure quality control to deliver accurate results you can trust.
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Evidence-Based Test Development
- Genes are vetted for clinical validity before inclusion in multigene panels
- Weighted scoring system guided by ClinGen
- Deliver appropriate, clinically useful information
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Clinical Review When Sample is Received
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- Ensures appropriate test utilization
- Clear next steps post-report
- Reduces risk of false negative result
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Optimized Quality Control Including DNA Fingerprinting
- Review at multiple steps by genetics experts to ensure accuracy, clinical correlation, and quality control
- DNA fingerprinting can identify gender discrepancies and detect possible external sample swaps to ensure that you receive the right results for the right patient
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Independent Data Review & Confirmatory Testing
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- Improves variant classification accuracy
- Ensures clinically concordant results
- Confirmatory testing of sequencing variants when established conservative thresholds are not met reduces potential for false negative or false positive results
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Expert Analysis of Complex Regions
Our experienced team and advanced technology enable consistent analysis of complex genetic regions, including promoters and pseudogenes, and interpretation of complicated result types, such as duplications and splice sites, to provide clear results.
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Best in Class Reports
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For every patient, our reports include:
- Customized interpretation of results based on clinical presentation
- Robust details, providing greater understanding into the classification process
"We don’t cut any corners. We don’t sacrifice quality or accuracy for anything."
Tom Schoenherr, CEO Ambry Genetics