The UCSF Genomic Medicine Laboratory (GML) is a CLIA (Clinical Laboratory Improvement Amendments) accredited clinical genomics laboratory, which offers whole exome sequencing for prenatal, pediatric and adult patient populations. We provide cutting-edge sequencing, bioinformatics, clinical interpretation, and counseling services to diagnose complex clinical cases.

The purpose of exome sequencing is to identify an underlying genetic etiology in patients with features suggestive of a genetic disorder, but without features diagnostic of a particular condition. These include, but are not limited to structural birth defects, intellectual disability, dysmorphia, epilepsy, collagen vascular disorder, deafness, infertility  and others. Exome sequencing enables comprehensive analysis that is not feasible with sequential single gene testing or smaller gene panel testing. For individuals with rare genetic diseases, exome sequencing has proven invaluable in establishing a diagnosis, determining recurrence risk for patients and other family members, understanding prognosis, guiding therapies, and establishing health surveillance.

In addition to providing clinical exome sequencing, the GML is supporting exome sequencing and interpretation for patients enrolled in the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS), a CSER2 study site funded by the NIH/NHGFR.  The goal of this study at UCSF is to examine the diagnostic and clinical utility of exome sequencing in medically underserved populations. P3EGS will recruit and study affected individuals and their parents.  This includes pregnancies in which the fetus has a confirmed structural anomaly, and children with previously undiagnosed developmental disorders that are likely of genetic etiology.