Pharma Test Menu
With 25 years of innovation, Ambry is the recognized leader in germline testing, with solutions to support our customers throughout the therapeutic development process. We offer an extensive menu of CLIA-validated panels for indications including Oncology, Cardiology, Neurology, and other disease states. Test customization ensures your assay is fit for purpose, with options for tailored Exome testing and Whole Genome Sequencing. We provide robust analytical assay validation as well as clinical validation, to help advance your therapy 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 our hereditary cancer panels, providing functional RNA information to interpret DNA variants, including deep intronic variants that might be missed by a DNA-only approach.
Our 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.
Ambry Quality at Every Step
From sample receipt to reporting, our quality is driven by years of experience. Our panels are designed with high sensitivity to the relevant therapeutic area, with each gene vetted for clinical validity before inclusion in multi-gene panels. Genes of interest are screened to at least 100x coverage, with Sanger sequencing verification under specific well-defined thresholds, to avoid false positives and increase confidence. Our lab workflow is carried out by scientific professionals with review at multiple steps, to deliver unparalleled accuracy in testing.
Delivering Clinical Insights
Ambry has the most up to date gene-disease database, and is a top contributor to the Gene Curation Coalition (GenCC) gene classification database. Our dedicated expert Gene Team uses a rigorous framework of literature surveillance and evidence evaluation to classify genes and characterize gene-disease relationships.
We also provide cutting-edge variant interpretation using the Ambry Variant Analyzer, a best-in-class tool that incorporates multiple lines of evidence to accurately classify variants.
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.