- Genetic testing guidance from M-CM Network Website
- Genetic testing for CLOVES Syndrome/PROS is more complicated than traditional genetic testing. Many heathcare providers are still unfamiliar with what mutations to test for and what samples are needed.
- Visual of the common genetic mutations for Vascular Anomalies and Vascular Anomaly Syndromes - Arin Greene et al 2018.
- Visual created by the National Institutes of Health to help explain PIK3ca mutations and overgrowth. [March 20, 2017]
July 2014 --- Clinical Genetic Test available via Washington University
This test must be ordered by a geneticist/physician. This is somatic variant analysis by next-generation sequencing for Segmental Overgrowth, McCune Albright (SOMA) and related syndromes. The test includes concise, expert interpretations by board-certified clinical genomicists and is covered by most insurance.
NIH Ongoing Research for PIK3ca mutations:
The National Institutes of Health does research testing of patients with all kinds of overgrowth.
If you'd like to learn more, contact Anna Buser at [email protected] or by phone at 301-435-6689.
More information here https://www.ncbi.nlm.nih.gov/gtr/tests/5534/
CLOVES Genetic Mutation Discovery (5/31/12)
Researchers at Boston Children's Hospital identify a genetic cause for CLOVES