Whole Genome Sequencing

Advanced diagnostics for genetic disorders

Whole genome sequencing (WGS) is the most comprehensive genetic test available. At UCSF Health, we use WGS to quickly screen for genetic disorders in a fetus (before birth) or in newborns with unexplained health issues.

While other genetic tests look at a small number of genes to check for a few specific conditions, whole genome sequencing analyzes the patient's entire genome (all the genes and DNA between genes). This test allows us to detect almost any genetic condition, including rare diseases that may otherwise go undiagnosed.

Determining the correct diagnosis enables doctors to plan the best care for your baby from the start. This is especially important for conditions that need prompt treatment.

If you plan to have more children, test results also help us better estimate the chances of the same condition occurring again and make more accurate prenatal diagnoses in future pregnancies.

Rapid whole genome sequencing is available through our Fetal Treatment Center and neonatal intensive care unit (NICU). Results are usually available within two to four weeks.

Eligibility for WGS

We offer fetal whole genome sequencing to patients if:

• A prenatal ultrasound shows a physical abnormality in one or more of the fetus's major organ systems.

• You had or will have amniocentesis or chorionic villus sampling (CVS).

We also provide WGS for newborns in our NICUs if:

• You had a prenatal ultrasound that showed signs of a genetic disorder, but did not have amniocentesis or CVS.

• You have a family history of genetic disorders.

• Your baby has physical features that may indicate a genetic condition.

• Your baby is having seizures, and the cause is unknown.

• We find abnormal results during newborn testing that could be due to a genetic condition.

Doing WGS during pregnancy or after birth requires at least one biological parent to provide a DNA sample (through blood or saliva).