A Clinical Genome Designed to Deliver Actionable Insights for Patients

 Long-Read Genome + Whole Transcriptome Research

Ambry is conducting ongoing long-read whole genome and whole transcriptome studies in unsolved rare disease. These efforts advance detection of complex variant classes and generate high-quality data that strengthen interpretation and inform the evolution of our clinical genome.  

 Patient for Life™ Program

Proactive reanalysis applies new discoveries to patient data over time, making the exome and genome a living test that evolves with each patient to increase diagnostic yield and keep reports current.

 Advanced RNA Analysis

With over 1,000,000 RNA analyses completed since 2019, Ambry applies deep RNA expertise to improve variant interpretation and resolve splicing variants, supporting more accurate and clinically actionable exome and genome results.