Medical Genetics

Medical Genetics

We offer genetic counseling and testing for people who have (or are at risk for) inherited or congenital disorders.

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Why choose UCSF Health for genetic counseling and testing?

Genetic diseases result from changes (mutations) to DNA. Some genetic changes are inherited, meaning they're passed down through families. Other genetic disorders are acquired, meaning DNA changes happen during a person's life to cause the condition.

Having or being at risk for a genetic disease can be scary for you and your family. We help you understand the advantages and disadvantages of testing. If you choose to have testing, we explain your results and next options for care.

About genetic testing at UCSF Health

Genetic counseling and testing can help us assess your risk for a disease based on family history. Genetic tests look for changes in genes, chromosomes or proteins. Some tests evaluate single genes or many genes. Other tests, called large-scale genomic tests, evaluate most or all of your DNA.

We use your test results to take protective measures, such as screenings, preventive therapies or other risk-reduction strategies.

You may consider genetic testing to:

  • Diagnose symptoms of a genetic condition

  • Find out your risk of a genetic condition that runs in your family

  • Guide treatment if you have a genetic condition

  • Learn the risk of passing a genetic condition on to your children

Types of testing we offer include:

  • Carrier testing. Determines if you have an abnormal gene and whether you may pass it on to your children

  • Diagnostic testing. Confirms certain genetic diseases if you're exhibiting symptoms

  • Predictive and presymptomatic testing. Evaluates the risk of genetic diseases that can develop later in life, such as certain cancers

  • Preimplantation testing. Tests embryos for genetic changes before transferring into the uterus during in vitro fertilization

  • Prenatal testing. Detects changes to DNA while a baby is still developing in the womb

  • Newborn screening. Screens a baby soon after birth for genetic conditions such as cystic fibrosis or sickle cell disease

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