Pharma Services Test Menu
Specialized panels, tailored sequencing, and expert clinical interpretation to characterize genomic targets and help streamline the drug development process.
A Legacy of Scientific Innovation
As an industry leader in germline testing, Ambry brings 25+ years of expertise to support pharmaceutical partners throughout the drug development process. A specialized menu of CLIA-validated panels spans oncology, cardiology, neurology, and rare disease, alongside tailored exome and whole genome sequencing to ensure your assay is fit for purpose. Flexible customization, paired with rigorous analytical and clinical validation, helps advance therapeutic targets from bench to clinic.
For deeper variant analysis, we offer +RNAinsight® comprehensive gene coverage for RNA analysis to help classify DNA variants. +RNAinsight® can be paired with hereditary cancer panels, providing functional RNA information to interpret DNA variants, including deep intronic variants that might be missed by a DNA-only approach.
Ambry’s clinical lab has analytical validations to CAP, CLIA, and NY State Dept. of Health requirements, as well as experience with IDE submissions and global regulatory requirements for clinical trials.
Building Quality into Every Step
- Target Coverage and Confirmation: Genes of interest screened to at least 100x coverage, with Sanger sequencing verification under well-defined thresholds to avoid false positives and increase confidence.
- Specialized Test Design: Multi-gene panels developed with high sensitivity to the relevant therapeutic area
- Rigorous Gene Vetting: Genes vetted for clinical validity before inclusion in panels.
- Reviewed Expert Workflows: Scientific professionals execute our workflows, reviewing data at multiple steps to deliver unparalleled accuracy
Translating Data into Precise Insights
Accurate clinical insights are necessary to help mitigate drug development risk, validate therapeutic targets, and confidently identify eligible patient cohorts. As a top contributor to the Gene Curation Coalition (GenCC), Ambry utilizes the industry’s most up-to-date gene classification database to turn complex genomic data into clinical insights.
Expert Gene Characterization: A dedicated Gene Team applies a rigorous framework of literature surveillance and evidence evaluation to accurately classify genes and characterize gene-disease relationships.
Advanced Variant Interpretation: The best-in-class Ambry Variant Analyzer tool integrates multiple lines of evidence, to accuratey classify genetic variants of unknown significance (VUS).
A cross-functional team of bioinformatic/biostatistical experts and other scientists continuously evaluate new evidence and incorporate the latest scientific advancements into our proprietary bioinformatics and reporting toolsets. The Ambry Classifi® program provides a framework for interpreting variants and understanding gene-disease associations, while using the latest tools to clarify unsolved or uncertain cases.
Ambry can help you delve deep on the data, delivering novel insights on disease state and patient response tailored to your study.