Clinical Genomics Laboratory

Genomic sequencing, including whole-exome sequencing, has been particularly successful in pediatric settings when a patient’s suspected genetic condition has eluded diagnosis. Many families with genetic diseases have benefited from the power of this technology and its ability to identify the underlying cause of their or their child’s condition.

If the initial analysis of your whole exome does not uncover a diagnosis, the test can be reanalyzed annually so that the patient’s sequencing data can be compared to newly discovered genetic variants. With reanalysis, we can continue to make diagnoses for years to come.

Exome or genome testing (called "genomic testing") examines your DNA to look for a genetic cause for your health issues.

In our exome sequencing test, all 21,000 coding genes are examined with additional coverage in the 8,000 genes that are already associated with disease. From there, a Stanford-built software platform narrows down the results to around 100 gene variants. Then, our clinical molecular geneticists and PhD data scientists and genetics counselors who are experts with a deep knowledge of the exome and genetic disorders, will review your medical history, analyze and interpret the data manually and compare each gene variant with those found in scientific literature.

All of Stanford Health Care are committed to protecting the privacy of health information we create or receive about our patients. The Clinical Genomics Laboratory at Stanford meets rigorous safety standards, and has been certified by Clinical Laboratory Improvement Amendments, (CLIA), and the College of American Pathologists (CAP).

As a clinical laboratory, we follow strict patient information privacy rules as spelled out in the Health Insurance Portability and Accountability Act (HIPAA).

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