Genetic Testing for Vascular Anomalies

At Children's Hospital Los Angeles, some of the most complicated vascular syndromes we treat benefit from a genetic-informed approach. Identifying what changes exist helps your child receive the most appropriate treatment.

We are one of the few pediatric programs in the country with on-site genetic testing services. Our geneticists and vascular anomalies specialists work together to diagnose anomalies with a high degree of accuracy. This approach ensures your child receives the best therapies right from the start.

Genetic Testing for Vascular Anomalies: Why Choose Us

The Vascular Anomalies Center at Children’s Hospital Los Angeles is the premier program of its kind on the West Coast. All specialists your child may need, including pediatric medical geneticists, come together in one program. We are at the leading edge of genetic testing for vascular anomalies and we use this testing to advance research in the field.

Highlights of our program include:

  • In-house genetic testing: Our Center for Personalized Medicine combines expertise with powerful technologies to accurately identify the genetic cause of certain childhood diseases. Having these capabilities in-house enables vascular anomalies specialists to collaborate with geneticists and use test results to their fullest benefit.
  • Advanced testing: Genetic mutations responsible for vascular anomalies are typically not present in all your child’s cells. Depending on the anomaly, it may be necessary to take a tissue sample (biopsy) and test for specific changes. You can count on experts at Children’s Hospital for both accurate sampling and reliable results.
  • Research: We are working to identify best practices in genetic testing for vascular anomalies. This information will help programs all over the world improve genetic testing capabilities. Find out more about vascular anomalies research.
  • Comprehensive care: Children whose diagnoses have a genetic cause can benefit from advanced therapies as all these diagnoses are genetic. We offer medical treatments that are not widely available and may help children avoid surgery.

Is Genetic Testing Right for My Child?

Genetic testing often brings to mind inherited conditions. But most gene changes that cause vascular anomalies do not usually run in families. This is why we may recommend genetic testing even if there is no family history of vascular anomalies.

Our experience treating the most complex vascular anomalies helps us determine which children might benefit from genetic testing.

Testing may be right for your child if:

  • Experts need more information to confirm a diagnosis.
  • Medical therapies have not been successful.
  • There is a strong suspicion of a syndrome, which may suggest additional medical needs.

Syndromes Associated with Vascular Anomalies

Genetic testing enables us to diagnose vascular anomalies associated with syndromes. These disorders often affect multiple organs and may require lifelong medical attention. The best care comes from multidisciplinary pediatric programs, such as the one at Children’s Hospital. Find out more about the vascular malformations and other anomalies we treat.

Syndromes we test for and treat include:

  • CLAPO syndrome: Malformations affecting the face and neck and overgrowth in one or more areas of the body
  • CLOVES syndrome: Fatty overgrowths, vascular malformations, spinal anomalies and other conditions
  • Fibro-adipose vascular anomaly (FAVA): Fibrous, fatty tissue that replaces muscle in one of the limbs
  • Klippel-Trénaunay syndrome: Multiple types of vascular anomalies in addition to abnormal development of bones, organs, skin and muscles
  • Proteus syndrome: Overgrowths affecting the bones, skin and other tissue

Comprehensive Vascular Anomalies Care for Children

We offer access to multiple pediatric subspecialists in one convenient location in Los Angeles. Find out more about our Vascular Anomalies Center.