Unknown Genetic Disorders

ACE Clinical Exome™ Test for Unknown Genetic Disorders

The utility of whole exome sequencing as a diagnostic tool has been hobbled by the fact that exome capture techniques developed by research-focused solution providers have failed to address the problem of incomplete gene sequence coverage. This limits standard exome sequencing to screening for only a fraction of the exonic regions that contain protein coding information. The resultis low diagnostic yields and ethical questions associated with the decision to recommend exome sequencing to patients.

Personalis is the industry leader in Clinical Exome Sequencing. The Personalis Accurate and Content Enhanced (ACE) Exome Sequencing Service uses a unique approach that provides 99% sequence coverage for over 7000 genes known to have medical interpretations.

Together with advanced analysis that leverages on the latest medical understanding of the impact of these mutations, the ACE Exome Sequencing Service guarantees higher diagnostic yields than other service providers. Backed by renowned thought leaders in the field of clinical exome sequencing from both the scientific and medical community and certified by the College of American Pathologists (CAP), Clinical ACE-Sequencing promises peace of mind for clinicians seeking to find a definitive answer to an ongoing medical question and provides patients with the most up-to-date service and expertise in personalized diagnosis and treatment.

ACE Clinical Exome™

by Personalis, Inc.

The ACE Clinical ExomeTM test is a clinical diagnostics service that is appropriate when a patient has a disorder that his or her doctor thinks is caused by a difference in one of their genes, but it is difficult to identify the exact genetic cause.

Read More